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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Idiopathic Parkinson’s disease phenotype related to <italic>C9ORF72</italic> repeat expansions: contribution of the neuropsychological assessment</title><author><name sortKey="Annan, Mariam" sort="Annan, Mariam" uniqKey="Annan M" first="Mariam" last="Annan">Mariam Annan</name><affiliation><nlm:aff id="I1">Department of neurology, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I2">University of Tours, France</nlm:aff></affiliation></author><author><name sortKey="Beaufils, Emilie" sort="Beaufils, Emilie" uniqKey="Beaufils E" first="Émilie" last="Beaufils">Émilie Beaufils</name><affiliation><nlm:aff id="I2">University of Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I3">Memory Clinic, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I4">Department of geriatrics, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation></author><author><name sortKey="Viola, Ursule Catherine" sort="Viola, Ursule Catherine" uniqKey="Viola U" first="Ursule-Catherine" last="Viola">Ursule-Catherine Viola</name><affiliation><nlm:aff id="I1">Department of neurology, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation></author><author><name sortKey="Vourc, Patrick" sort="Vourc, Patrick" uniqKey="Vourc P" first="Patrick" last="Vourc">Patrick Vourc</name><affiliation><nlm:aff id="I2">University of Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I5">INSERM U930, Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I6">Department of biochemistry and molecular biology, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation></author><author><name sortKey="Hommet, Caroline" sort="Hommet, Caroline" uniqKey="Hommet C" first="Caroline" last="Hommet">Caroline Hommet</name><affiliation><nlm:aff id="I2">University of Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I3">Memory Clinic, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I4">Department of geriatrics, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I5">INSERM U930, Tours, France</nlm:aff></affiliation></author><author><name sortKey="Mondon, Karl" sort="Mondon, Karl" uniqKey="Mondon K" first="Karl" last="Mondon">Karl Mondon</name><affiliation><nlm:aff id="I2">University of Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I3">Memory Clinic, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I4">Department of geriatrics, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I5">INSERM U930, Tours, France</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23987827</idno><idno type="pmc">3765963</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765963</idno><idno type="RBID">PMC:3765963</idno><idno type="doi">10.1186/1756-0500-6-343</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">000338</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000338</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Idiopathic Parkinson’s disease phenotype related to <italic>C9ORF72</italic> repeat expansions: contribution of the neuropsychological assessment</title><author><name sortKey="Annan, Mariam" sort="Annan, Mariam" uniqKey="Annan M" first="Mariam" last="Annan">Mariam Annan</name><affiliation><nlm:aff id="I1">Department of neurology, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I2">University of Tours, France</nlm:aff></affiliation></author><author><name sortKey="Beaufils, Emilie" sort="Beaufils, Emilie" uniqKey="Beaufils E" first="Émilie" last="Beaufils">Émilie Beaufils</name><affiliation><nlm:aff id="I2">University of Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I3">Memory Clinic, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I4">Department of geriatrics, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation></author><author><name sortKey="Viola, Ursule Catherine" sort="Viola, Ursule Catherine" uniqKey="Viola U" first="Ursule-Catherine" last="Viola">Ursule-Catherine Viola</name><affiliation><nlm:aff id="I1">Department of neurology, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation></author><author><name sortKey="Vourc, Patrick" sort="Vourc, Patrick" uniqKey="Vourc P" first="Patrick" last="Vourc">Patrick Vourc</name><affiliation><nlm:aff id="I2">University of Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I5">INSERM U930, Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I6">Department of biochemistry and molecular biology, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation></author><author><name sortKey="Hommet, Caroline" sort="Hommet, Caroline" uniqKey="Hommet C" first="Caroline" last="Hommet">Caroline Hommet</name><affiliation><nlm:aff id="I2">University of Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I3">Memory Clinic, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I4">Department of geriatrics, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I5">INSERM U930, Tours, France</nlm:aff></affiliation></author><author><name sortKey="Mondon, Karl" sort="Mondon, Karl" uniqKey="Mondon K" first="Karl" last="Mondon">Karl Mondon</name><affiliation><nlm:aff id="I2">University of Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I3">Memory Clinic, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I4">Department of geriatrics, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</nlm:aff></affiliation><affiliation><nlm:aff id="I5">INSERM U930, Tours, France</nlm:aff></affiliation></author></analytic><series><title level="j">BMC Research Notes</title><idno type="eISSN">1756-0500</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Expanded GGGGCC hexanucleotide repeats in the non-coding region of the <italic>C9ORF72</italic> gene was recently identified as being responsible for over 40% of the cases of amyotrophic lateral sclerosis associated with frontotemporal lobar degeneration, in various extrapyramidal syndromes including supranuclear gaze palsy and corticobasal degeneration, and in addition, has been found to be a rare genetic cause of isolated Parkinsonism. To our knowledge, there is no published data concerning the neuropsychological evaluation of patients diagnosed with idiopathic Parkinson’s disease related with <italic>C9ORF72</italic> repeat expansions.</p></sec><sec><title>Case presentation</title><p>We report the results of the comprehensive neuropsychological evaluation in a newly described case in the literature (the sixth) of a patient presenting isolated idiopathic Parkinson’s disease associated with <italic>C9ORF72</italic> repeat expansions.</p><p>The decrease in the patient’s prefrontal functions resulted in a slight decrease in global efficiency. These abnormalities did not appear to be different, with respect to the deficit observed and the intensity of the cognitive impairment, from those classically observed in cases of sporadic idiopathic Parkinson’s disease. Our patient also exhibited a significant impairment in visual gnosis.</p></sec><sec><title>Conclusions</title><p>If confirmed in other patients, visuoperceptive deficits in idiopathic Parkinson’s disease could represent a red flag that should prompt the clinician to perform addition diagnostic procedures. A thorough neuropsychological assessment may prove to be useful for detecting idiopathic Parkinson’s disease in patients who are suspected of having repeat abnormalities of <italic>C9ORF72</italic> expansions.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Renton, Ae" uniqKey="Renton A">AE Renton</name></author><author><name sortKey="Majounie, E" uniqKey="Majounie E">E Majounie</name></author><author><name sortKey="Waite, A" uniqKey="Waite A">A Waite</name></author><author><name sortKey="Sim N Sanchez, J" uniqKey="Sim N Sanchez J">J Simón-Sánchez</name></author><author><name sortKey="Rollinson, S" uniqKey="Rollinson S">S Rollinson</name></author><author><name sortKey="Gibbs, Jr" uniqKey="Gibbs J">JR Gibbs</name></author><author><name sortKey="Schymick, Jc" uniqKey="Schymick J">JC Schymick</name></author><author><name sortKey="Laaksovirta, H" uniqKey="Laaksovirta H">H Laaksovirta</name></author><author><name sortKey="Van Swieten, Jc" uniqKey="Van Swieten J">JC van Swieten</name></author><author><name sortKey="Myllykangas, L" uniqKey="Myllykangas L">L Myllykangas</name></author><author><name sortKey="Kalimo, H" uniqKey="Kalimo H">H Kalimo</name></author><author><name sortKey="Paetau, A" uniqKey="Paetau A">A Paetau</name></author><author><name sortKey="Abramzon, Y" uniqKey="Abramzon Y">Y Abramzon</name></author><author><name sortKey="Remes, Am" uniqKey="Remes A">AM Remes</name></author><author><name sortKey="Kaganovich, A" uniqKey="Kaganovich A">A Kaganovich</name></author><author><name sortKey="Scholz, Sw" uniqKey="Scholz S">SW Scholz</name></author><author><name sortKey="Duckworth, J" uniqKey="Duckworth J">J Duckworth</name></author><author><name sortKey="Ding, J" uniqKey="Ding J">J Ding</name></author><author><name sortKey="Harmer, Dw" uniqKey="Harmer D">DW Harmer</name></author><author><name sortKey="Hernandez, Dg" uniqKey="Hernandez D">DG Hernandez</name></author><author><name sortKey="Johnson, Jo" uniqKey="Johnson J">JO Johnson</name></author><author><name sortKey="Mok, K" uniqKey="Mok K">K Mok</name></author><author><name sortKey="Ryten, M" uniqKey="Ryten M">M Ryten</name></author><author><name sortKey="Trabzuni, D" uniqKey="Trabzuni D">D Trabzuni</name></author><author><name sortKey="Guerreiro, Rj" uniqKey="Guerreiro R">RJ Guerreiro</name></author><author><name sortKey="Orrell, Rw" uniqKey="Orrell R">RW Orrell</name></author><author><name sortKey="Neal, J" uniqKey="Neal J">J Neal</name></author><author><name sortKey="Murray, A" uniqKey="Murray A">A Murray</name></author><author><name sortKey="Pearson, J" uniqKey="Pearson J">J Pearson</name></author><author><name sortKey="Jansen, Ie" uniqKey="Jansen I">IE Jansen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dejesus Hernandez, M" uniqKey="Dejesus Hernandez M">M DeJesus-Hernandez</name></author><author><name sortKey="Mackenzie, Ir" uniqKey="Mackenzie I">IR Mackenzie</name></author><author><name sortKey="Boeve, Bf" uniqKey="Boeve B">BF Boeve</name></author><author><name sortKey="Boxer, Al" uniqKey="Boxer A">AL Boxer</name></author><author><name sortKey="Baker, M" uniqKey="Baker M">M Baker</name></author><author><name sortKey="Rutherford, Nj" uniqKey="Rutherford N">NJ Rutherford</name></author><author><name sortKey="Nicholson, Am" uniqKey="Nicholson A">AM Nicholson</name></author><author><name sortKey="Finch, Na" uniqKey="Finch N">NA Finch</name></author><author><name sortKey="Flynn, H" uniqKey="Flynn H">H Flynn</name></author><author><name sortKey="Adamson, J" uniqKey="Adamson J">J Adamson</name></author><author><name sortKey="Kouri, N" uniqKey="Kouri N">N Kouri</name></author><author><name sortKey="Wojtas, A" uniqKey="Wojtas A">A Wojtas</name></author><author><name sortKey="Sengdy, P" uniqKey="Sengdy P">P Sengdy</name></author><author><name sortKey="Hsiung, G Yr" uniqKey="Hsiung G">G-YR Hsiung</name></author><author><name sortKey="Karydas, A" uniqKey="Karydas A">A Karydas</name></author><author><name sortKey="Seeley, Ww" uniqKey="Seeley W">WW Seeley</name></author><author><name sortKey="Josephs, Ka" uniqKey="Josephs K">KA Josephs</name></author><author><name sortKey="Coppola, G" uniqKey="Coppola G">G Coppola</name></author><author><name sortKey="Geschwind, Dh" uniqKey="Geschwind D">DH Geschwind</name></author><author><name sortKey="Wszolek, Zk" uniqKey="Wszolek Z">ZK Wszolek</name></author><author><name sortKey="Feldman, H" uniqKey="Feldman H">H Feldman</name></author><author><name sortKey="Knopman, Ds" uniqKey="Knopman D">DS Knopman</name></author><author><name sortKey="Petersen, Rc" uniqKey="Petersen R">RC Petersen</name></author><author><name sortKey="Miller, Bl" uniqKey="Miller B">BL Miller</name></author><author><name sortKey="Dickson, Dw" uniqKey="Dickson D">DW Dickson</name></author><author><name sortKey="Boylan, Kb" uniqKey="Boylan K">KB Boylan</name></author><author><name sortKey="Graff Radford, Nr" uniqKey="Graff Radford N">NR Graff-Radford</name></author><author><name sortKey="Rademakers, R" uniqKey="Rademakers R">R Rademakers</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Le Ber, I" uniqKey="Le Ber I">I Le Ber</name></author><author><name sortKey="Camuzat, A" uniqKey="Camuzat A">A Camuzat</name></author><author><name sortKey="Guillot Noel, L" uniqKey="Guillot Noel L">L Guillot-Noel</name></author><author><name sortKey="Hannequin, D" uniqKey="Hannequin D">D Hannequin</name></author><author><name sortKey="Lacomblez, L" uniqKey="Lacomblez L">L Lacomblez</name></author><author><name sortKey="Golfier, V" uniqKey="Golfier V">V Golfier</name></author><author><name sortKey="Puel, M" uniqKey="Puel M">M Puel</name></author><author><name sortKey="Martinaud, O" uniqKey="Martinaud O">O Martinaud</name></author><author><name sortKey="Deramecourt, V" uniqKey="Deramecourt V">V Deramecourt</name></author><author><name sortKey="Rivaud Pechoux, S" uniqKey="Rivaud Pechoux S">S Rivaud-Pechoux</name></author><author><name sortKey="Millecamps, S" uniqKey="Millecamps S">S Millecamps</name></author><author><name sortKey="Vercelletto, M" uniqKey="Vercelletto M">M Vercelletto</name></author><author><name sortKey="Couratier, P" uniqKey="Couratier P">P Couratier</name></author><author><name sortKey="Sellal, F" uniqKey="Sellal F">F Sellal</name></author><author><name sortKey="Pasquier, F" uniqKey="Pasquier F">F Pasquier</name></author><author><name sortKey="Salachas, F" uniqKey="Salachas F">F Salachas</name></author><author><name sortKey="Thomas Anterion, C" uniqKey="Thomas Anterion C">C Thomas-Antérion</name></author><author><name sortKey="Didic, M" uniqKey="Didic M">M Didic</name></author><author><name sortKey="Pariente, J" uniqKey="Pariente J">J Pariente</name></author><author><name sortKey="Seilhean, D" uniqKey="Seilhean D">D Seilhean</name></author><author><name sortKey="Ruberg, M" uniqKey="Ruberg M">M Ruberg</name></author><author><name sortKey="Wargon, I" uniqKey="Wargon I">I Wargon</name></author><author><name sortKey="Blanc, F" uniqKey="Blanc F">F Blanc</name></author><author><name sortKey="Camu, W" uniqKey="Camu W">W Camu</name></author><author><name sortKey="Michel, B F" uniqKey="Michel B">B-F Michel</name></author><author><name sortKey="Berger, E" uniqKey="Berger E">E Berger</name></author><author><name sortKey="Sauvee, M" uniqKey="Sauvee M">M Sauvée</name></author><author><name sortKey="Thauvin Robinet, C" uniqKey="Thauvin Robinet C">C Thauvin-Robinet</name></author><author><name sortKey="Mondon, K" uniqKey="Mondon K">K Mondon</name></author><author><name sortKey="Tournier Lasserve, E" uniqKey="Tournier Lasserve E">E Tournier-Lasserve</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lesage, S" uniqKey="Lesage S">S Lesage</name></author><author><name sortKey="Le Ber, I" uniqKey="Le Ber I">I Le Ber</name></author><author><name sortKey="Condroyer, C" uniqKey="Condroyer C">C Condroyer</name></author><author><name sortKey="Broussolle, E" uniqKey="Broussolle E">E Broussolle</name></author><author><name sortKey="Gabelle, A" uniqKey="Gabelle A">A Gabelle</name></author><author><name sortKey="Thobois, S" uniqKey="Thobois S">S Thobois</name></author><author><name sortKey="Pasquier, F" uniqKey="Pasquier F">F Pasquier</name></author><author><name sortKey="Mondon, K" uniqKey="Mondon K">K Mondon</name></author><author><name sortKey="Dion, Pa" uniqKey="Dion P">PA Dion</name></author><author><name sortKey="Rochefort, D" uniqKey="Rochefort D">D Rochefort</name></author><author><name sortKey="Rouleau, Ga" uniqKey="Rouleau G">GA Rouleau</name></author><author><name sortKey="Durr, A" uniqKey="Durr A">A Dürr</name></author><author><name sortKey="Brice, A" uniqKey="Brice A">A Brice</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hughes, Aj" uniqKey="Hughes A">AJ Hughes</name></author><author><name sortKey="Daniel, Se" uniqKey="Daniel S">SE Daniel</name></author><author><name sortKey="Kilford, L" uniqKey="Kilford L">L Kilford</name></author><author><name sortKey="Lees, Aj" uniqKey="Lees A">AJ Lees</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mattis, S" uniqKey="Mattis S">S Mattis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dubois, B" uniqKey="Dubois B">B Dubois</name></author><author><name sortKey="Slachevsky, A" uniqKey="Slachevsky A">A Slachevsky</name></author><author><name sortKey="Litvan, I" uniqKey="Litvan I">I Litvan</name></author><author><name sortKey="Pillon, B" uniqKey="Pillon B">B Pillon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Reitan, Rm" uniqKey="Reitan R">RM REITAN</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Stroop, Jr" uniqKey="Stroop J">JR Stroop</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wechsler, D" uniqKey="Wechsler D">D Wechsler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Grober, E" uniqKey="Grober E">E Grober</name></author><author><name sortKey="Buschke, H" uniqKey="Buschke H">H Buschke</name></author><author><name sortKey="Crystal, H" uniqKey="Crystal H">H Crystal</name></author><author><name sortKey="Bang, S" uniqKey="Bang S">S Bang</name></author><author><name sortKey="Dresner, R" uniqKey="Dresner R">R Dresner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Taylor, Lb" uniqKey="Taylor L">LB Taylor</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Deloche, G" uniqKey="Deloche G">G Deloche</name></author><author><name sortKey="Hannequin, D" uniqKey="Hannequin D">D Hannequin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mahieux Laurent, F" uniqKey="Mahieux Laurent F">F Mahieux-Laurent</name></author><author><name sortKey="Fabre, C" uniqKey="Fabre C">C Fabre</name></author><author><name sortKey="Galbrun, E" uniqKey="Galbrun E">E Galbrun</name></author><author><name sortKey="Dubrulle, A" uniqKey="Dubrulle A">A Dubrulle</name></author><author><name sortKey="Moroni, C" uniqKey="Moroni C">C Moroni</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cardebat, D" uniqKey="Cardebat D">D Cardebat</name></author><author><name sortKey="Doyon, B" uniqKey="Doyon B">B Doyon</name></author><author><name sortKey="Puel, M" uniqKey="Puel M">M Puel</name></author><author><name sortKey="Goulet, P" uniqKey="Goulet P">P Goulet</name></author><author><name sortKey="Joanette, Y" uniqKey="Joanette Y">Y Joanette</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Poppelreuter, W" uniqKey="Poppelreuter W">W Poppelreuter</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Agniel, A" uniqKey="Agniel A">A Agniel</name></author><author><name sortKey="Joanette, Y" uniqKey="Joanette Y">Y Joanette</name></author><author><name sortKey="Doyon, B" uniqKey="Doyon B">B Doyon</name></author><author><name sortKey="Duchein, C" uniqKey="Duchein C">C Duchein</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dubois, B" uniqKey="Dubois B">B Dubois</name></author><author><name sortKey="Pillon, B" uniqKey="Pillon B">B Pillon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hanna Pladdy, B" uniqKey="Hanna Pladdy B">B Hanna-Pladdy</name></author><author><name sortKey="Jones, K" uniqKey="Jones K">K Jones</name></author><author><name sortKey="Cabanban, R" uniqKey="Cabanban R">R Cabanban</name></author><author><name sortKey="Pahwa, R" uniqKey="Pahwa R">R Pahwa</name></author><author><name sortKey="Lyons, Ke" uniqKey="Lyons K">KE Lyons</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="case-report" xml:lang="en"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">BMC Res Notes</journal-id><journal-id journal-id-type="iso-abbrev">BMC Res Notes</journal-id><journal-title-group><journal-title>BMC Research Notes</journal-title></journal-title-group><issn pub-type="epub">1756-0500</issn><publisher><publisher-name>BioMed Central</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">23987827</article-id><article-id pub-id-type="pmc">3765963</article-id><article-id pub-id-type="publisher-id">1756-0500-6-343</article-id><article-id pub-id-type="doi">10.1186/1756-0500-6-343</article-id><article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject></subj-group></article-categories><title-group><article-title>Idiopathic Parkinson’s disease phenotype related to <italic>C9ORF72</italic> repeat expansions: contribution of the neuropsychological assessment</article-title></title-group><contrib-group><contrib contrib-type="author" id="A1"><name><surname>Annan</surname><given-names>Mariam</given-names></name><xref ref-type="aff" rid="I1">1</xref><xref ref-type="aff" rid="I2">2</xref><email>mariam.annan@etu.univ-tours.fr</email></contrib><contrib contrib-type="author" id="A2"><name><surname>Beaufils</surname><given-names>Émilie</given-names></name><xref ref-type="aff" rid="I2">2</xref><xref ref-type="aff" rid="I3">3</xref><xref ref-type="aff" rid="I4">4</xref><email>e.beaufils@chu-tours.fr</email></contrib><contrib contrib-type="author" id="A3"><name><surname>Viola</surname><given-names>Ursule-Catherine</given-names></name><xref ref-type="aff" rid="I1">1</xref><email>secretaire.doc.viola@live.fr</email></contrib><contrib contrib-type="author" id="A4"><name><surname>Vourc’h</surname><given-names>Patrick</given-names></name><xref ref-type="aff" rid="I2">2</xref><xref ref-type="aff" rid="I5">5</xref><xref ref-type="aff" rid="I6">6</xref><email>vourch@med.univ-tours.fr</email></contrib><contrib contrib-type="author" id="A5"><name><surname>Hommet</surname><given-names>Caroline</given-names></name><xref ref-type="aff" rid="I2">2</xref><xref ref-type="aff" rid="I3">3</xref><xref ref-type="aff" rid="I4">4</xref><xref ref-type="aff" rid="I5">5</xref><email>hommet@med.univ-tours.fr</email></contrib><contrib contrib-type="author" corresp="yes" id="A6"><name><surname>Mondon</surname><given-names>Karl</given-names></name><xref ref-type="aff" rid="I2">2</xref><xref ref-type="aff" rid="I3">3</xref><xref ref-type="aff" rid="I4">4</xref><xref ref-type="aff" rid="I5">5</xref><email>karl.mondon@med.univ-tours.fr</email></contrib></contrib-group><aff id="I1"><label>1</label>Department of neurology, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</aff><aff id="I2"><label>2</label>University of Tours, France</aff><aff id="I3"><label>3</label>Memory Clinic, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</aff><aff id="I4"><label>4</label>Department of geriatrics, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</aff><aff id="I5"><label>5</label>INSERM U930, Tours, France</aff><aff id="I6"><label>6</label>Department of biochemistry and molecular biology, University hospital center of Tours, 2 bd Tonnellé, 37044 Tours, France</aff><pub-date pub-type="collection"><year>2013</year></pub-date><pub-date pub-type="epub"><day>29</day><month>8</month><year>2013</year></pub-date><volume>6</volume><fpage>343</fpage><lpage>343</lpage><history><date date-type="received"><day>20</day><month>4</month><year>2013</year></date><date date-type="accepted"><day>29</day><month>8</month><year>2013</year></date></history><permissions><copyright-statement>Copyright © 2013 Annan et al.; licensee BioMed Central Ltd.</copyright-statement><copyright-year>2013</copyright-year><copyright-holder>Annan et al.; licensee BioMed Central Ltd.</copyright-holder><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/2.0"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/2.0">http://creativecommons.org/licenses/by/2.0</ext-link>), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><self-uri xlink:href="http://www.biomedcentral.com/1756-0500/6/343"></self-uri><abstract><sec><title>Background</title><p>Expanded GGGGCC hexanucleotide repeats in the non-coding region of the <italic>C9ORF72</italic> gene was recently identified as being responsible for over 40% of the cases of amyotrophic lateral sclerosis associated with frontotemporal lobar degeneration, in various extrapyramidal syndromes including supranuclear gaze palsy and corticobasal degeneration, and in addition, has been found to be a rare genetic cause of isolated Parkinsonism. To our knowledge, there is no published data concerning the neuropsychological evaluation of patients diagnosed with idiopathic Parkinson’s disease related with <italic>C9ORF72</italic> repeat expansions.</p></sec><sec><title>Case presentation</title><p>We report the results of the comprehensive neuropsychological evaluation in a newly described case in the literature (the sixth) of a patient presenting isolated idiopathic Parkinson’s disease associated with <italic>C9ORF72</italic> repeat expansions.</p><p>The decrease in the patient’s prefrontal functions resulted in a slight decrease in global efficiency. These abnormalities did not appear to be different, with respect to the deficit observed and the intensity of the cognitive impairment, from those classically observed in cases of sporadic idiopathic Parkinson’s disease. Our patient also exhibited a significant impairment in visual gnosis.</p></sec><sec><title>Conclusions</title><p>If confirmed in other patients, visuoperceptive deficits in idiopathic Parkinson’s disease could represent a red flag that should prompt the clinician to perform addition diagnostic procedures. A thorough neuropsychological assessment may prove to be useful for detecting idiopathic Parkinson’s disease in patients who are suspected of having repeat abnormalities of <italic>C9ORF72</italic> expansions.</p></sec></abstract><kwd-group><kwd><italic>C9ORF72</italic> repeat expansion</kwd><kwd>Parkinson’s disease</kwd><kwd>Cognition</kwd></kwd-group></article-meta></front><body><sec><title>Background</title><p>Expanded GGGGCC hexanucleotide repeats in non-coding regions of the <italic>C9ORF72</italic> gene was recently identified as being responsible of over 40% of the cases of amyotrophic lateral sclerosis associated with frontotemporal lobar degeneration [<xref ref-type="bibr" rid="B1">1</xref>,<xref ref-type="bibr" rid="B2">2</xref>].</p><p>Recent publications have shown involvement of <italic>C9ORF72</italic> repeat expansions in various extrapyramidal syndromes including supranuclear gaze palsy and corticobasal degeneration [<xref ref-type="bibr" rid="B3">3</xref>] and has also be found to constitute a rare genetic cause of isolated parkinsonism [<xref ref-type="bibr" rid="B4">4</xref>] in some patients who fulfil the UK Parkinson’s Disease Society Brain Bank [<xref ref-type="bibr" rid="B5">5</xref>] criteria for idiopathic Parkinson’s disease (IPD).</p><p>To our knowledge, there is no published data on the contribution of the neuropsychological assessment in these last-mentioned patients.</p><p>We report the results of the thorough neuropsychological assessment of a newly described case in the literature (the sixth) of a patient presenting isolated IPD associated with <italic>C9ORF72</italic> repeat expansions.</p></sec><sec><title>Case presentation</title><p>A 63 year-old woman was referred to our department because of a strong family history of neurological diseases: her mother had died at the age of 59 years with Alzheimer’s dementia and her two sisters had died at age 69 and 59 y respectively with a diagnosis of frontotemporal lobar degeneration associated with minor symptoms of parkinsonism. A <italic>C9ORF72</italic> repeat expansion was found by genetic analysis in the youngest sister.</p><p>Her personal medical history included appendectomy, diabetes mellitus, and a complete excision of a melanoma.</p><p>Parkinsonism was first diagnosed in 2009 at the age of 63 years when left akinesia and tremor appeared. Her symptoms responded poorly to levodopa, and the response rate was estimated to be approximately 20% by both the patient and her husband, and progressively worsened. At the onset, neurological examination revealed a resting tremor associated with akinesia. The Parkinsonism was bilateral but was clearly predominant on the left side. Rapid and alternative movements in the left hand were severely hypometric. Her left lower extremity was also akinetic, and she had severe difficulties in performing repetitive movements. She had no limitation in oculomotor movements and no gait disorder. She never developed motor fluctuations or dyskinesias. The patient fulfilled the criteria for IPD according to the UK Parkinson’s Disease Society Brain Bank [<xref ref-type="bibr" rid="B5">5</xref>]: i/ the parkinson’s syndrome was defined by bradykinesia, with a 4–6 Hz resting tremor associated with muscular rigidity; ii/ no exclusion criteria were observed; iii/ the clinical presentation included more than 3 supportive prospective criteria (unilateral onset, rest tremor, progressive clinical course, persistent asymmetry affecting the side most affected at the onset of the disease).</p><p>A complete neuropsychological assessment two years after the onset of the disease (2011) revealed preservation of global cognitive efficiency (MATTIS DRS score: 137/144 [<xref ref-type="bibr" rid="B6">6</xref>]), difficulties in the executive functions (with a score at 10/18 on the Frontal Assessment Battery [<xref ref-type="bibr" rid="B7">7</xref>]), no difficulty in mental flexibility (Trail making test [<xref ref-type="bibr" rid="B8">8</xref>]) or sensitivity to interference (stroop test [<xref ref-type="bibr" rid="B9">9</xref>]), and global slowness (Coding subtest of the WAIS [<xref ref-type="bibr" rid="B10">10</xref>]).</p><p>After the discovery of the disease, we asked the patient for permission to test for the <italic>C9ORF72</italic> gene abnormality. The number of repeat expansions was superior to 30 and was therefore considered to be abnormal.</p><p>In 2012, a comprehensive neuropsychological assessment was performed (see results in Table <xref ref-type="table" rid="T1">1</xref>) and revealed: a slight decrease in global cognitive efficiency (MATTIS DRS score [<xref ref-type="bibr" rid="B6">6</xref>]), normal efficiency in long-term verbal episodic (free and cued recall test [<xref ref-type="bibr" rid="B11">11</xref>]) and visual (modified Taylor complex figure [<xref ref-type="bibr" rid="B12">12</xref>]) memories, language (oral denomination [<xref ref-type="bibr" rid="B13">13</xref>]), praxis (Mahieux’s battery [<xref ref-type="bibr" rid="B14">14</xref>] and visuospatial skills (Modified Taylor complex figure - copy [<xref ref-type="bibr" rid="B12">12</xref>]); low scores in short-term memory (WAIS-III digit span subtest [<xref ref-type="bibr" rid="B10">10</xref>]), and the prefrontal functions including verbal initiation (verbal fluencies [<xref ref-type="bibr" rid="B15">15</xref>]), and conflicting task (stroop test [<xref ref-type="bibr" rid="B9">9</xref>]). Unfortunately, our patient also exhibited significant difficulties in visual gnosis (Poppelreuter [<xref ref-type="bibr" rid="B16">16</xref>] and PEGV [<xref ref-type="bibr" rid="B17">17</xref>]).</p><table-wrap position="float" id="T1"><label>Table 1</label><caption><p>Results of the neuropsychological assessment</p></caption><table frame="hsides" rules="groups" border="1"><colgroup><col align="left"></col><col align="left"></col><col align="center"></col></colgroup><thead valign="top"><tr><th colspan="2" align="left"><bold>Cognitive domain / Neuropsychological test (Range)</bold></th><th align="center"><bold>Score*</bold></th></tr></thead><tbody valign="top"><tr><td colspan="2" align="left" valign="bottom">Global efficiency<hr></hr></td><td align="center" valign="bottom"> <hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">MATTIS DRS (0–144)<hr></hr></td><td align="center" valign="bottom"><bold>133</bold><hr></hr></td></tr><tr><td align="left" valign="bottom">Memory<hr></hr></td><td align="left" valign="bottom"> <hr></hr></td><td align="center" valign="bottom"> <hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">Free and cued recall test<hr></hr></td><td align="center" valign="bottom"> <hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom"> Immediate recall (0–16)<hr></hr></td><td align="center" valign="bottom"><bold>13</bold><hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom"> Free recall (0–48)<hr></hr></td><td align="center" valign="bottom">25<hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom"> Total recall (0–48)<hr></hr></td><td align="center" valign="bottom">44<hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom"> % sensitivity (0–100)<hr></hr></td><td align="center" valign="bottom">83%<hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">WAIS-R digit span subtest (direct)<hr></hr></td><td align="center" valign="bottom"><bold>4</bold><hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">WAIS-R digit span subtest (reverse)<hr></hr></td><td align="center" valign="bottom">3<hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">Modified Taylor Complex figure (memory) (0–36)<hr></hr></td><td align="center" valign="bottom">17<hr></hr></td></tr><tr><td align="left" valign="bottom">Language<hr></hr></td><td align="left" valign="bottom"> <hr></hr></td><td align="center" valign="bottom"> <hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">DO-80 (0–80)<hr></hr></td><td align="center" valign="bottom">78<hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">Letter fluency task 2 min (>0)<hr></hr></td><td align="center" valign="bottom">21<hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">Semantic fluency task 2 min (>0)<hr></hr></td><td align="center" valign="bottom"><bold>5</bold><hr></hr></td></tr><tr><td colspan="2" align="left" valign="bottom">Visuospatial skills<hr></hr></td><td align="center" valign="bottom"> <hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">Modified Taylor Complex figure (copy) (0–36)<hr></hr></td><td align="center" valign="bottom">29<hr></hr></td></tr><tr><td colspan="2" align="left" valign="bottom">Visual gnosis<hr></hr></td><td align="center" valign="bottom"> <hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">Poppelreuter (0–8)<hr></hr></td><td align="center" valign="bottom"><bold>4</bold><hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">PEGV (0–36)<hr></hr></td><td align="center" valign="bottom"><bold>27</bold><hr></hr></td></tr><tr><td colspan="2" align="left" valign="bottom">Prefrontal functions<hr></hr></td><td align="center" valign="bottom"> <hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">TMT A (time in s)<hr></hr></td><td align="center" valign="bottom">99<hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">TMT B (time in s)<hr></hr></td><td align="center" valign="bottom">223<hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">Stroop conflictual task (sec)<hr></hr></td><td align="center" valign="bottom"><bold>146</bold><hr></hr></td></tr><tr><td colspan="2" align="left" valign="bottom">Limb praxis<hr></hr></td><td align="center" valign="bottom"> <hr></hr></td></tr><tr><td align="left" valign="bottom"> <hr></hr></td><td align="left" valign="bottom">Mahieux’s battery (0–20)<hr></hr></td><td align="center" valign="bottom">17<hr></hr></td></tr><tr><td colspan="2" align="left" valign="bottom">Visuomotor speed<hr></hr></td><td align="center" valign="bottom"> <hr></hr></td></tr><tr><td align="left"> </td><td align="left">WAIS-R coding subtest (0–133)</td><td align="center"><bold>26</bold></td></tr></tbody></table><table-wrap-foot><p>*in bold caps: abnormal scores.</p></table-wrap-foot></table-wrap></sec><sec sec-type="conclusions"><title>Conclusions</title><p>We report the case of a patient diagnosed with IPD according to the usual criteria, who presented neuropsychological impairment early in the clinical course. Her primary difficulties included impaired prefrontal functions resulting in a slight decrease in global efficiency. These abnormalities are similar, in terms of deficit and intensity, to the cognitive impairment classically observed in sporadic cases of IPD [<xref ref-type="bibr" rid="B18">18</xref>]. Our patient also exhibited significant impairment in visual gnosis. An alteration in visuomotor and visuoperceptive functions have been described in IPD, but the deficit is usually mild when it occurs in non-demented patients [<xref ref-type="bibr" rid="B19">19</xref>]. If confirmed in other patients, this unusually severe deficit in IPD could represent a red flag, alerting the clinician to perform additional diagnostic procedures.</p><p>A thorough neuropsychological assessment could prove to be useful for detecting in IPD patients who are suspected of having <italic>C9ORF72</italic> repeat expansions abnormalities.</p></sec><sec><title>Consent</title><p>Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.</p></sec><sec><title>Competing interests</title><p>The authors declare that they have no competing interests.</p></sec><sec><title>Authors’ contributions</title><p>MA participated in the writing; EB took care of the patient, revised the final version of the paper; UCV took care of the patient; PV carried out the molecular genetic study; CH revised and approved the final version of the paper, KM took care of the patient, participated in the writing, revised and approved the final version.</p></sec></body><back><sec><title>Acknowledgements</title><p>The authors wish to thank Dr Donald SCHWARTZ who revised the English version.</p></sec><ref-list><ref id="B1"><mixed-citation publication-type="journal"><name><surname>Renton</surname><given-names>AE</given-names></name><name><surname>Majounie</surname><given-names>E</given-names></name><name><surname>Waite</surname><given-names>A</given-names></name><name><surname>Simón-Sánchez</surname><given-names>J</given-names></name><name><surname>Rollinson</surname><given-names>S</given-names></name><name><surname>Gibbs</surname><given-names>JR</given-names></name><name><surname>Schymick</surname><given-names>JC</given-names></name><name><surname>Laaksovirta</surname><given-names>H</given-names></name><name><surname>van Swieten</surname><given-names>JC</given-names></name><name><surname>Myllykangas</surname><given-names>L</given-names></name><name><surname>Kalimo</surname><given-names>H</given-names></name><name><surname>Paetau</surname><given-names>A</given-names></name><name><surname>Abramzon</surname><given-names>Y</given-names></name><name><surname>Remes</surname><given-names>AM</given-names></name><name><surname>Kaganovich</surname><given-names>A</given-names></name><name><surname>Scholz</surname><given-names>SW</given-names></name><name><surname>Duckworth</surname><given-names>J</given-names></name><name><surname>Ding</surname><given-names>J</given-names></name><name><surname>Harmer</surname><given-names>DW</given-names></name><name><surname>Hernandez</surname><given-names>DG</given-names></name><name><surname>Johnson</surname><given-names>JO</given-names></name><name><surname>Mok</surname><given-names>K</given-names></name><name><surname>Ryten</surname><given-names>M</given-names></name><name><surname>Trabzuni</surname><given-names>D</given-names></name><name><surname>Guerreiro</surname><given-names>RJ</given-names></name><name><surname>Orrell</surname><given-names>RW</given-names></name><name><surname>Neal</surname><given-names>J</given-names></name><name><surname>Murray</surname><given-names>A</given-names></name><name><surname>Pearson</surname><given-names>J</given-names></name><name><surname>Jansen</surname><given-names>IE</given-names></name><etal></etal><article-title>A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD</article-title><source>Neuron</source><year>2011</year><volume>72</volume><fpage>257</fpage><lpage>268</lpage><pub-id pub-id-type="doi">10.1016/j.neuron.2011.09.010</pub-id><pub-id pub-id-type="pmid">21944779</pub-id></mixed-citation></ref><ref id="B2"><mixed-citation publication-type="journal"><name><surname>DeJesus-Hernandez</surname><given-names>M</given-names></name><name><surname>Mackenzie</surname><given-names>IR</given-names></name><name><surname>Boeve</surname><given-names>BF</given-names></name><name><surname>Boxer</surname><given-names>AL</given-names></name><name><surname>Baker</surname><given-names>M</given-names></name><name><surname>Rutherford</surname><given-names>NJ</given-names></name><name><surname>Nicholson</surname><given-names>AM</given-names></name><name><surname>Finch</surname><given-names>NA</given-names></name><name><surname>Flynn</surname><given-names>H</given-names></name><name><surname>Adamson</surname><given-names>J</given-names></name><name><surname>Kouri</surname><given-names>N</given-names></name><name><surname>Wojtas</surname><given-names>A</given-names></name><name><surname>Sengdy</surname><given-names>P</given-names></name><name><surname>Hsiung</surname><given-names>G-YR</given-names></name><name><surname>Karydas</surname><given-names>A</given-names></name><name><surname>Seeley</surname><given-names>WW</given-names></name><name><surname>Josephs</surname><given-names>KA</given-names></name><name><surname>Coppola</surname><given-names>G</given-names></name><name><surname>Geschwind</surname><given-names>DH</given-names></name><name><surname>Wszolek</surname><given-names>ZK</given-names></name><name><surname>Feldman</surname><given-names>H</given-names></name><name><surname>Knopman</surname><given-names>DS</given-names></name><name><surname>Petersen</surname><given-names>RC</given-names></name><name><surname>Miller</surname><given-names>BL</given-names></name><name><surname>Dickson</surname><given-names>DW</given-names></name><name><surname>Boylan</surname><given-names>KB</given-names></name><name><surname>Graff-Radford</surname><given-names>NR</given-names></name><name><surname>Rademakers</surname><given-names>R</given-names></name><article-title>Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS</article-title><source>Neuron</source><year>2011</year><volume>72</volume><fpage>245</fpage><lpage>256</lpage><pub-id pub-id-type="doi">10.1016/j.neuron.2011.09.011</pub-id><pub-id pub-id-type="pmid">21944778</pub-id></mixed-citation></ref><ref id="B3"><mixed-citation publication-type="journal"><name><surname>Le Ber</surname><given-names>I</given-names></name><name><surname>Camuzat</surname><given-names>A</given-names></name><name><surname>Guillot-Noel</surname><given-names>L</given-names></name><name><surname>Hannequin</surname><given-names>D</given-names></name><name><surname>Lacomblez</surname><given-names>L</given-names></name><name><surname>Golfier</surname><given-names>V</given-names></name><name><surname>Puel</surname><given-names>M</given-names></name><name><surname>Martinaud</surname><given-names>O</given-names></name><name><surname>Deramecourt</surname><given-names>V</given-names></name><name><surname>Rivaud-Pechoux</surname><given-names>S</given-names></name><name><surname>Millecamps</surname><given-names>S</given-names></name><name><surname>Vercelletto</surname><given-names>M</given-names></name><name><surname>Couratier</surname><given-names>P</given-names></name><name><surname>Sellal</surname><given-names>F</given-names></name><name><surname>Pasquier</surname><given-names>F</given-names></name><name><surname>Salachas</surname><given-names>F</given-names></name><name><surname>Thomas-Antérion</surname><given-names>C</given-names></name><name><surname>Didic</surname><given-names>M</given-names></name><name><surname>Pariente</surname><given-names>J</given-names></name><name><surname>Seilhean</surname><given-names>D</given-names></name><name><surname>Ruberg</surname><given-names>M</given-names></name><name><surname>Wargon</surname><given-names>I</given-names></name><name><surname>Blanc</surname><given-names>F</given-names></name><name><surname>Camu</surname><given-names>W</given-names></name><name><surname>Michel</surname><given-names>B-F</given-names></name><name><surname>Berger</surname><given-names>E</given-names></name><name><surname>Sauvée</surname><given-names>M</given-names></name><name><surname>Thauvin-Robinet</surname><given-names>C</given-names></name><name><surname>Mondon</surname><given-names>K</given-names></name><name><surname>Tournier-Lasserve</surname><given-names>E</given-names></name><etal></etal><article-title>C9ORF72 Repeat Expansions in the Frontotemporal Dementias Spectrum of Diseases: A Flow-chart for Genetic Testing</article-title><source>J Alzheimers Dis</source><year>2013</year><volume>34</volume><fpage>485</fpage><lpage>499</lpage><pub-id pub-id-type="pmid">23254636</pub-id></mixed-citation></ref><ref id="B4"><mixed-citation publication-type="journal"><name><surname>Lesage</surname><given-names>S</given-names></name><name><surname>Le Ber</surname><given-names>I</given-names></name><name><surname>Condroyer</surname><given-names>C</given-names></name><name><surname>Broussolle</surname><given-names>E</given-names></name><name><surname>Gabelle</surname><given-names>A</given-names></name><name><surname>Thobois</surname><given-names>S</given-names></name><name><surname>Pasquier</surname><given-names>F</given-names></name><name><surname>Mondon</surname><given-names>K</given-names></name><name><surname>Dion</surname><given-names>PA</given-names></name><name><surname>Rochefort</surname><given-names>D</given-names></name><name><surname>Rouleau</surname><given-names>GA</given-names></name><name><surname>Dürr</surname><given-names>A</given-names></name><name><surname>Brice</surname><given-names>A</given-names></name><article-title>C9orf72 repeat expansions are a rare genetic cause of parkinsonism</article-title><source>Brain</source><year>2013</year><volume>136</volume><issue>Pt 2</issue><fpage>385</fpage><lpage>391</lpage><pub-id pub-id-type="pmid">23413259</pub-id></mixed-citation></ref><ref id="B5"><mixed-citation publication-type="journal"><name><surname>Hughes</surname><given-names>AJ</given-names></name><name><surname>Daniel</surname><given-names>SE</given-names></name><name><surname>Kilford</surname><given-names>L</given-names></name><name><surname>Lees</surname><given-names>AJ</given-names></name><article-title>Accuracy of clinical diagnosis of idiopathic Parkinson’s disease: a clinico-pathological study of 100 cases</article-title><source>J Neurol Neurosurg Psychiatr</source><year>1992</year><volume>55</volume><fpage>181</fpage><lpage>184</lpage><pub-id pub-id-type="doi">10.1136/jnnp.55.3.181</pub-id><pub-id pub-id-type="pmid">1564476</pub-id></mixed-citation></ref><ref id="B6"><mixed-citation publication-type="book"><name><surname>Mattis</surname><given-names>S</given-names></name><person-group person-group-type="editor">Bellak L, Karasu TB</person-group><article-title>Mental status examination for organic mental syndrome in the elderly patient</article-title><source>Geriatric psychiatry</source><year>1970</year><publisher-name>New York: Grune & Stratton</publisher-name><fpage>77</fpage><lpage>121</lpage></mixed-citation></ref><ref id="B7"><mixed-citation publication-type="journal"><name><surname>Dubois</surname><given-names>B</given-names></name><name><surname>Slachevsky</surname><given-names>A</given-names></name><name><surname>Litvan</surname><given-names>I</given-names></name><name><surname>Pillon</surname><given-names>B</given-names></name><article-title>The FAB: a Frontal Assessment Battery at bedside</article-title><source>Neurology</source><year>2000</year><volume>55</volume><fpage>1621</fpage><lpage>1626</lpage><pub-id pub-id-type="doi">10.1212/WNL.55.11.1621</pub-id><pub-id pub-id-type="pmid">11113214</pub-id></mixed-citation></ref><ref id="B8"><mixed-citation publication-type="journal"><name><surname>REITAN</surname><given-names>RM</given-names></name><article-title>The relation of the trail making test to organic brain damage</article-title><source>J Consult Psychol</source><year>1955</year><volume>19</volume><fpage>393</fpage><lpage>394</lpage><pub-id pub-id-type="pmid">13263471</pub-id></mixed-citation></ref><ref id="B9"><mixed-citation publication-type="journal"><name><surname>Stroop</surname><given-names>JR</given-names></name><article-title>Studies of interference in serial verbal reactions</article-title><source>J Exp Psychol</source><year>1935</year><volume>18</volume><fpage>643</fpage><lpage>662</lpage></mixed-citation></ref><ref id="B10"><mixed-citation publication-type="book"><name><surname>Wechsler</surname><given-names>D</given-names></name><source>Echelle D’intelligence de Wechsler Pour Adultes, Forme Révisée (WAIS-R)</source><year>1989</year><publisher-name>Paris: Edition du centre de psychologie appliquée</publisher-name></mixed-citation></ref><ref id="B11"><mixed-citation publication-type="journal"><name><surname>Grober</surname><given-names>E</given-names></name><name><surname>Buschke</surname><given-names>H</given-names></name><name><surname>Crystal</surname><given-names>H</given-names></name><name><surname>Bang</surname><given-names>S</given-names></name><name><surname>Dresner</surname><given-names>R</given-names></name><article-title>Screening for dementia by memory testing</article-title><source>Neurology</source><year>1988</year><volume>38</volume><fpage>900</fpage><lpage>903</lpage><pub-id pub-id-type="doi">10.1212/WNL.38.6.900</pub-id><pub-id pub-id-type="pmid">3368071</pub-id></mixed-citation></ref><ref id="B12"><mixed-citation publication-type="journal"><name><surname>Taylor</surname><given-names>LB</given-names></name><article-title>Localisation of cerebral lesions by psychological testing</article-title><source>Clin Neurosurg</source><year>1969</year><volume>16</volume><fpage>269</fpage><lpage>287</lpage><pub-id pub-id-type="pmid">5811709</pub-id></mixed-citation></ref><ref id="B13"><mixed-citation publication-type="book"><name><surname>Deloche</surname><given-names>G</given-names></name><name><surname>Hannequin</surname><given-names>D</given-names></name><source>DO80. Epreuve de Dénomination Orale D’images</source><year>1997</year><publisher-name>Paris: Edition du centre de psychologie appliquée</publisher-name></mixed-citation></ref><ref id="B14"><mixed-citation publication-type="journal"><name><surname>Mahieux-Laurent</surname><given-names>F</given-names></name><name><surname>Fabre</surname><given-names>C</given-names></name><name><surname>Galbrun</surname><given-names>E</given-names></name><name><surname>Dubrulle</surname><given-names>A</given-names></name><name><surname>Moroni</surname><given-names>C</given-names></name><article-title>[Validation of a brief screening scale evaluating praxic abilities for use in memory clinics. Evaluation in 419 controls, 127 mild cognitive impairment and 320 demented patients]</article-title><source>Rev Neurol (Paris)</source><year>2009</year><volume>165</volume><fpage>560</fpage><lpage>567</lpage><pub-id pub-id-type="doi">10.1016/j.neurol.2008.11.016</pub-id><pub-id pub-id-type="pmid">19150097</pub-id></mixed-citation></ref><ref id="B15"><mixed-citation publication-type="journal"><name><surname>Cardebat</surname><given-names>D</given-names></name><name><surname>Doyon</surname><given-names>B</given-names></name><name><surname>Puel</surname><given-names>M</given-names></name><name><surname>Goulet</surname><given-names>P</given-names></name><name><surname>Joanette</surname><given-names>Y</given-names></name><article-title>Formal and semantic lexical evocation in normal subjects. Performance and dynamics of production as a function of sex, age and educational level</article-title><source>Acta Neurol Belg</source><year>1990</year><volume>90</volume><fpage>207</fpage><lpage>217</lpage><pub-id pub-id-type="pmid">2124031</pub-id></mixed-citation></ref><ref id="B16"><mixed-citation publication-type="book"><name><surname>Poppelreuter</surname><given-names>W</given-names></name><source>Die Psychischen Schadigungen durch Kopfschuss im Kriege</source><year>1917</year><publisher-name>Leipzig: Voss L</publisher-name></mixed-citation></ref><ref id="B17"><mixed-citation publication-type="book"><name><surname>Agniel</surname><given-names>A</given-names></name><name><surname>Joanette</surname><given-names>Y</given-names></name><name><surname>Doyon</surname><given-names>B</given-names></name><name><surname>Duchein</surname><given-names>C</given-names></name><source>Protocole Montréal-Toulouse d’Examen Des Gnosies Visuelles (PEGV) et Des Gnosies Auditives (PEGA)</source><year>1992</year><publisher-name>Isbergues: Ortho-Edition</publisher-name></mixed-citation></ref><ref id="B18"><mixed-citation publication-type="journal"><name><surname>Dubois</surname><given-names>B</given-names></name><name><surname>Pillon</surname><given-names>B</given-names></name><article-title>Cognitive deficits in Parkinson’s disease</article-title><source>J Neurol</source><year>1997</year><volume>244</volume><fpage>2</fpage><lpage>8</lpage><pub-id pub-id-type="doi">10.1007/PL00007721</pub-id><pub-id pub-id-type="pmid">9007738</pub-id></mixed-citation></ref><ref id="B19"><mixed-citation publication-type="journal"><name><surname>Hanna-Pladdy</surname><given-names>B</given-names></name><name><surname>Jones</surname><given-names>K</given-names></name><name><surname>Cabanban</surname><given-names>R</given-names></name><name><surname>Pahwa</surname><given-names>R</given-names></name><name><surname>Lyons</surname><given-names>KE</given-names></name><article-title>Predictors of mild cognitive impairment in early-stage Parkinson’s disease</article-title><source>Dement Geriatr Cogn Dis Extra</source><year>2013</year><volume>3</volume><fpage>168</fpage><lpage>178</lpage><pub-id pub-id-type="doi">10.1159/000351421</pub-id><pub-id pub-id-type="pmid">23741229</pub-id></mixed-citation></ref></ref-list></back></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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