Idiopathic Parkinson's disease phenotype related to C9ORF72 repeat expansions: contribution of the neuropsychological assessment.
Identifieur interne : 000705 ( PubMed/Corpus ); précédent : 000704; suivant : 000706Idiopathic Parkinson's disease phenotype related to C9ORF72 repeat expansions: contribution of the neuropsychological assessment.
Auteurs : Mariam Annan ; Émilie Beaufils ; Ursule-Catherine Viola ; Patrick Vourc'H ; Caroline Hommet ; Karl MondonSource :
- BMC research notes [ 1756-0500 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Proteins.
- genetics : Parkinson Disease.
- physiopathology : Parkinson Disease.
- psychology : Parkinson Disease.
- Cognition, Female, Genetic Predisposition to Disease, Humans, Microsatellite Repeats, Middle Aged, Neuropsychological Tests, Open Reading Frames, Phenotype, Visual Perception.
Abstract
Expanded GGGGCC hexanucleotide repeats in the non-coding region of the C9ORF72 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 C9ORF72 repeat expansions.
DOI: 10.1186/1756-0500-6-343
PubMed: 23987827
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Idiopathic Parkinson's disease phenotype related to C9ORF72 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:affiliation>University of Tours, France. karl.mondon@med.univ-tours.fr.</nlm:affiliation></affiliation></author><author><name sortKey="Beaufils, Emilie" sort="Beaufils, Emilie" uniqKey="Beaufils E" first="Émilie" last="Beaufils">Émilie Beaufils</name></author><author><name sortKey="Viola, Ursule Catherine" sort="Viola, Ursule Catherine" uniqKey="Viola U" first="Ursule-Catherine" last="Viola">Ursule-Catherine Viola</name></author><author><name sortKey="Vourc H, Patrick" sort="Vourc H, Patrick" uniqKey="Vourc H P" first="Patrick" last="Vourc'H">Patrick Vourc'H</name></author><author><name sortKey="Hommet, Caroline" sort="Hommet, Caroline" uniqKey="Hommet C" first="Caroline" last="Hommet">Caroline Hommet</name></author><author><name sortKey="Mondon, Karl" sort="Mondon, Karl" uniqKey="Mondon K" first="Karl" last="Mondon">Karl Mondon</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="RBID">pubmed:23987827</idno><idno type="pmid">23987827</idno><idno type="doi">10.1186/1756-0500-6-343</idno><idno type="wicri:Area/PubMed/Corpus">000705</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000705</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Idiopathic Parkinson's disease phenotype related to C9ORF72 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:affiliation>University of Tours, France. karl.mondon@med.univ-tours.fr.</nlm:affiliation></affiliation></author><author><name sortKey="Beaufils, Emilie" sort="Beaufils, Emilie" uniqKey="Beaufils E" first="Émilie" last="Beaufils">Émilie Beaufils</name></author><author><name sortKey="Viola, Ursule Catherine" sort="Viola, Ursule Catherine" uniqKey="Viola U" first="Ursule-Catherine" last="Viola">Ursule-Catherine Viola</name></author><author><name sortKey="Vourc H, Patrick" sort="Vourc H, Patrick" uniqKey="Vourc H P" first="Patrick" last="Vourc'H">Patrick Vourc'H</name></author><author><name sortKey="Hommet, Caroline" sort="Hommet, Caroline" uniqKey="Hommet C" first="Caroline" last="Hommet">Caroline Hommet</name></author><author><name sortKey="Mondon, Karl" sort="Mondon, Karl" uniqKey="Mondon K" first="Karl" last="Mondon">Karl Mondon</name></author></analytic><series><title level="j">BMC research notes</title><idno type="eISSN">1756-0500</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cognition</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Neuropsychological Tests</term><term>Open Reading Frames</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Parkinson Disease (psychology)</term><term>Phenotype</term><term>Proteins (genetics)</term><term>Visual Perception</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Cognition</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Neuropsychological Tests</term><term>Open Reading Frames</term><term>Phenotype</term><term>Visual Perception</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Expanded GGGGCC hexanucleotide repeats in the non-coding region of the C9ORF72 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 C9ORF72 repeat expansions.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">23987827</PMID><DateCreated><Year>2013</Year><Month>11</Month><Day>15</Day></DateCreated><DateCompleted><Year>2014</Year><Month>12</Month><Day>11</Day></DateCompleted><DateRevised><Year>2015</Year><Month>04</Month><Day>23</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1756-0500</ISSN><JournalIssue CitedMedium="Internet"><Volume>6</Volume><PubDate><Year>2013</Year><Month>Aug</Month><Day>29</Day></PubDate></JournalIssue><Title>BMC research notes</Title><ISOAbbreviation>BMC Res Notes</ISOAbbreviation></Journal><ArticleTitle>Idiopathic Parkinson's disease phenotype related to C9ORF72 repeat expansions: contribution of the neuropsychological assessment.</ArticleTitle><Pagination><MedlinePgn>343</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/1756-0500-6-343</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Expanded GGGGCC hexanucleotide repeats in the non-coding region of the C9ORF72 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 C9ORF72 repeat expansions.</AbstractText><AbstractText Label="CASE PRESENTATION" NlmCategory="METHODS">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 C9ORF72 repeat expansions.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.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">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 C9ORF72 expansions.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Annan</LastName><ForeName>Mariam</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>University of Tours, France. karl.mondon@med.univ-tours.fr.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Beaufils</LastName><ForeName>Émilie</ForeName><Initials>É</Initials></Author><Author ValidYN="Y"><LastName>Viola</LastName><ForeName>Ursule-Catherine</ForeName><Initials>UC</Initials></Author><Author ValidYN="Y"><LastName>Vourc'h</LastName><ForeName>Patrick</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Hommet</LastName><ForeName>Caroline</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Mondon</LastName><ForeName>Karl</ForeName><Initials>K</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>08</Month><Day>29</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>BMC Res Notes</MedlineTA><NlmUniqueID>101462768</NlmUniqueID><ISSNLinking>1756-0500</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C568651">C9orf72 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011506">Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2000 Dec 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Version="1">13263471</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Rev Neurol (Paris). 2009 Jun-Jul;165(6-7):560-7</RefSource><PMID Version="1">19150097</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuron. 2011 Oct 20;72(2):245-56</RefSource><PMID Version="1">21944778</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuron. 2011 Oct 20;72(2):257-68</RefSource><PMID Version="1">21944779</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain. 2013 Feb;136(Pt 2):385-91</RefSource><PMID Version="1">23413259</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurol. 1997 Jan;244(1):2-8</RefSource><PMID Version="1">9007738</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D003071" MajorTopicYN="N">Cognition</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018895" MajorTopicYN="Y">Microsatellite Repeats</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009483" MajorTopicYN="N">Neuropsychological Tests</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016366" MajorTopicYN="N">Open Reading Frames</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName><QualifierName UI="Q000523" 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