A family with parkinsonism, essential tremor, restless legs syndrome, and depression
Identifieur interne : 000992 ( Pmc/Checkpoint ); précédent : 000991; suivant : 000993A family with parkinsonism, essential tremor, restless legs syndrome, and depression
Auteurs : A. Puschmann ; R. F. Pfeiffer ; A. J. Stoessl ; R. Kuriakose ; J. L. Lash ; J. A. Searcy ; A. J. Strongosky ; C. Vilari O-Güell ; M. J. Farrer ; O. A. Ross ; D. W. Dickson ; Z. K. WszolekSource :
- Neurology [ 0028-3878 ] ; 2011.
Abstract
Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS).
We describe the clinical, PET, and pathologic characteristics of an extensive kindred from Arkansas with hereditary PD, ET, and RLS. The pedigree contains 138 individuals. Sixty-five family members were examined neurologically up to 3 times from 2004 to 2010. Clinical data were collected from medical records and questionnaires. Genetic studies were performed. Five family members underwent multitracer PET. Two individuals with PD were examined postmortem.
Eleven family members had PD with generally mild and slowly progressive symptoms. Age at onset was between 39 and 74 years (mean 59.1, SD 13.4). All individuals treated with
Familial forms of PD, ET, RLS, and depression occur in this family. The genetic cause remains to be elucidated.
Url:
DOI: 10.1212/WNL.0b013e318219fb42
PubMed: 21555728
PubMed Central: 3100088
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A family with parkinsonism, essential tremor, restless legs syndrome, and depression</title><author><name sortKey="Puschmann, A" sort="Puschmann, A" uniqKey="Puschmann A" first="A." last="Puschmann">A. Puschmann</name></author><author><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R. F." last="Pfeiffer">R. F. Pfeiffer</name></author><author><name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A. J." last="Stoessl">A. J. Stoessl</name></author><author><name sortKey="Kuriakose, R" sort="Kuriakose, R" uniqKey="Kuriakose R" first="R." last="Kuriakose">R. Kuriakose</name></author><author><name sortKey="Lash, J L" sort="Lash, J L" uniqKey="Lash J" first="J. L." last="Lash">J. L. Lash</name></author><author><name sortKey="Searcy, J A" sort="Searcy, J A" uniqKey="Searcy J" first="J. A." last="Searcy">J. A. Searcy</name></author><author><name sortKey="Strongosky, A J" sort="Strongosky, A J" uniqKey="Strongosky A" first="A. J." last="Strongosky">A. J. Strongosky</name></author><author><name sortKey="Vilari O Guell, C" sort="Vilari O Guell, C" uniqKey="Vilari O Guell C" first="C." last="Vilari O-Güell">C. Vilari O-Güell</name></author><author><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M. J." last="Farrer">M. J. Farrer</name></author><author><name sortKey="Ross, O A" sort="Ross, O A" uniqKey="Ross O" first="O. A." last="Ross">O. A. Ross</name></author><author><name sortKey="Dickson, D W" sort="Dickson, D W" uniqKey="Dickson D" first="D. W." last="Dickson">D. W. Dickson</name></author><author><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z. K." last="Wszolek">Z. K. Wszolek</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21555728</idno><idno type="pmc">3100088</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3100088</idno><idno type="RBID">PMC:3100088</idno><idno type="doi">10.1212/WNL.0b013e318219fb42</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">000612</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000612</idno><idno type="wicri:Area/Pmc/Curation">000612</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000612</idno><idno type="wicri:Area/Pmc/Checkpoint">000992</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000992</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A family with parkinsonism, essential tremor, restless legs syndrome, and depression</title><author><name sortKey="Puschmann, A" sort="Puschmann, A" uniqKey="Puschmann A" first="A." last="Puschmann">A. Puschmann</name></author><author><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R. F." last="Pfeiffer">R. F. Pfeiffer</name></author><author><name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A. J." last="Stoessl">A. J. Stoessl</name></author><author><name sortKey="Kuriakose, R" sort="Kuriakose, R" uniqKey="Kuriakose R" first="R." last="Kuriakose">R. Kuriakose</name></author><author><name sortKey="Lash, J L" sort="Lash, J L" uniqKey="Lash J" first="J. L." last="Lash">J. L. Lash</name></author><author><name sortKey="Searcy, J A" sort="Searcy, J A" uniqKey="Searcy J" first="J. A." last="Searcy">J. A. Searcy</name></author><author><name sortKey="Strongosky, A J" sort="Strongosky, A J" uniqKey="Strongosky A" first="A. J." last="Strongosky">A. J. Strongosky</name></author><author><name sortKey="Vilari O Guell, C" sort="Vilari O Guell, C" uniqKey="Vilari O Guell C" first="C." last="Vilari O-Güell">C. Vilari O-Güell</name></author><author><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M. J." last="Farrer">M. J. Farrer</name></author><author><name sortKey="Ross, O A" sort="Ross, O A" uniqKey="Ross O" first="O. A." last="Ross">O. A. Ross</name></author><author><name sortKey="Dickson, D W" sort="Dickson, D W" uniqKey="Dickson D" first="D. W." last="Dickson">D. W. Dickson</name></author><author><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z. K." last="Wszolek">Z. K. Wszolek</name></author></analytic><series><title level="j">Neurology</title><idno type="ISSN">0028-3878</idno><idno type="eISSN">1526-632X</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background:</title><p>Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS).</p></sec><sec><title>Methods:</title><p>We describe the clinical, PET, and pathologic characteristics of an extensive kindred from Arkansas with hereditary PD, ET, and RLS. The pedigree contains 138 individuals. Sixty-five family members were examined neurologically up to 3 times from 2004 to 2010. Clinical data were collected from medical records and questionnaires. Genetic studies were performed. Five family members underwent multitracer PET. Two individuals with PD were examined postmortem.</p></sec><sec><title>Results:</title><p>Eleven family members had PD with generally mild and slowly progressive symptoms. Age at onset was between 39 and 74 years (mean 59.1, SD 13.4). All individuals treated with <sc>l</sc>-dopa responded positively. Postural or action tremor was present in 6 individuals with PD, and in 19 additional family members. Fifteen persons reported symptoms of RLS. PET showed reduced presynaptic dopamine function typical of sporadic PD in a patient with PD and ET, but not in persons with ET or RLS. The inheritance pattern was autosomal dominant for PD and RLS. No known pathogenic mutation in PD-related genes was found. Fourteen of the family members with PD, ET, or RLS had depression. Neuropathologic examination revealed pallidonigral pigment spheroid degeneration with ubiquitin-positive axonal spheroids, TDP43-positive pathology in the basal ganglia, hippocampus, and brainstem, and only sparse Lewy bodies.</p></sec><sec><title>Conclusion:</title><p>Familial forms of PD, ET, RLS, and depression occur in this family. The genetic cause remains to be elucidated.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Neurology</journal-id><journal-id journal-id-type="hwp">neurology</journal-id><journal-id journal-id-type="publisher-id">neur</journal-id><journal-id journal-id-type="pmc">neurology</journal-id><journal-id journal-id-type="publisher-id">WNL</journal-id><journal-title-group><journal-title>Neurology</journal-title></journal-title-group><issn pub-type="ppub">0028-3878</issn><issn pub-type="epub">1526-632X</issn><publisher><publisher-name>Lippincott Williams & Wilkins</publisher-name><publisher-loc>Hagerstown, MD</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">21555728</article-id><article-id pub-id-type="pmc">3100088</article-id><article-id pub-id-type="publisher-id">WNL202563</article-id><article-id pub-id-type="doi">10.1212/WNL.0b013e318219fb42</article-id><article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>91</subject><subject>165</subject><subject>168</subject><subject>239</subject><subject>249</subject></subj-group><subj-group subj-group-type="heading"><subject>Articles</subject></subj-group></article-categories><title-group><article-title>A family with parkinsonism, essential tremor, restless legs syndrome, and depression</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Puschmann</surname><given-names>A.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Pfeiffer</surname><given-names>R.F.</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Stoessl</surname><given-names>A.J.</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>Kuriakose</surname><given-names>R.</given-names></name><degrees>MD, DM</degrees></contrib><contrib contrib-type="author"><name><surname>Lash</surname><given-names>J.L.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Searcy</surname><given-names>J.A.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Strongosky</surname><given-names>A.J.</given-names></name></contrib><contrib contrib-type="author"><name><surname>Vilariño-Güell</surname><given-names>C.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Farrer</surname><given-names>M.J.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Ross</surname><given-names>O.A.</given-names></name><degrees>PhD</degrees></contrib><contrib contrib-type="author"><name><surname>Dickson</surname><given-names>D.W.</given-names></name><degrees>MD, PhD</degrees></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Wszolek</surname><given-names>Z.K.</given-names></name><degrees>MD</degrees></contrib><aff>From the Departments of Neurology (A.P., J.L.L., J.A.S., A.J.S., Z.K.W.), Neuroscience (C.V.-G., M.J.F., O.A.R.), and Neuroscience (Neuropathology) (D.W.D.), Mayo Clinic, Jacksonville, FL; Department of Geriatric Psychiatry (A.P.), Lund University, Sweden; Department of Neurology (R.F.P.), University of Tennessee Health Science Center, Memphis; University of British Columbia & Vancouver Coastal Health (A.J.S., R.K.), Vancouver; Saint John Regional Hospital (R.K.), Saint John; and Centre for Molecular Medicine and Therapeutics (C.V.-G., M.J.F.), University of British Columbia, Vancouver, BC, Canada.</aff></contrib-group><author-notes><fn fn-type="other"><p><italic>Study funding:</italic> Supported by the NIH/NINDS (P50NS072187), Mayo Clinic Florida Research Committee (90052018), and Canadian Institutes of Health Research, Pacific Alzheimer Research Foundation, Canada Research Chairs (A.J.S.).</p></fn><corresp>Address correspondence and reprint requests to Dr. Zbigniew K. Wszolek,
<addr-line>Department of Neurology, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224</addr-line><email>Wszolek.Zbigniew@mayo.edu</email></corresp></author-notes><pub-date pub-type="ppub"><day>10</day><month>5</month><year>2011</year></pub-date><pub-date pub-type="pmc-release"><day>4</day><month>11</month><year>2011</year></pub-date><pmc-comment> PMC Release delay is 5 months and 25 days and was based on the
<volume>76</volume><issue>19</issue><fpage>1623</fpage><lpage>1630</lpage><history><date date-type="received"><day>20</day><month>10</month><year>2010</year></date><date date-type="accepted"><day>28</day><month>1</month><year>2011</year></date></history><permissions><copyright-statement>Copyright © 2011 by AAN Enterprises, Inc.</copyright-statement><copyright-year>2011</copyright-year><copyright-holder>AAN Enterprises, Inc.</copyright-holder></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="znl01911001623.pdf"></self-uri><abstract><sec><title>Background:</title><p>Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS).</p></sec><sec><title>Methods:</title><p>We describe the clinical, PET, and pathologic characteristics of an extensive kindred from Arkansas with hereditary PD, ET, and RLS. The pedigree contains 138 individuals. Sixty-five family members were examined neurologically up to 3 times from 2004 to 2010. Clinical data were collected from medical records and questionnaires. Genetic studies were performed. Five family members underwent multitracer PET. Two individuals with PD were examined postmortem.</p></sec><sec><title>Results:</title><p>Eleven family members had PD with generally mild and slowly progressive symptoms. Age at onset was between 39 and 74 years (mean 59.1, SD 13.4). All individuals treated with <sc>l</sc>-dopa responded positively. Postural or action tremor was present in 6 individuals with PD, and in 19 additional family members. Fifteen persons reported symptoms of RLS. PET showed reduced presynaptic dopamine function typical of sporadic PD in a patient with PD and ET, but not in persons with ET or RLS. The inheritance pattern was autosomal dominant for PD and RLS. No known pathogenic mutation in PD-related genes was found. Fourteen of the family members with PD, ET, or RLS had depression. Neuropathologic examination revealed pallidonigral pigment spheroid degeneration with ubiquitin-positive axonal spheroids, TDP43-positive pathology in the basal ganglia, hippocampus, and brainstem, and only sparse Lewy bodies.</p></sec><sec><title>Conclusion:</title><p>Familial forms of PD, ET, RLS, and depression occur in this family. The genetic cause remains to be elucidated.</p></sec></abstract></article-meta></front></pmc><affiliations><list></list><tree><noCountry><name sortKey="Dickson, D W" sort="Dickson, D W" uniqKey="Dickson D" first="D. W." last="Dickson">D. W. Dickson</name><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M. J." last="Farrer">M. J. Farrer</name><name sortKey="Kuriakose, R" sort="Kuriakose, R" uniqKey="Kuriakose R" first="R." last="Kuriakose">R. Kuriakose</name><name sortKey="Lash, J L" sort="Lash, J L" uniqKey="Lash J" first="J. L." last="Lash">J. L. Lash</name><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R. F." last="Pfeiffer">R. F. Pfeiffer</name><name sortKey="Puschmann, A" sort="Puschmann, A" uniqKey="Puschmann A" first="A." last="Puschmann">A. Puschmann</name><name sortKey="Ross, O A" sort="Ross, O A" uniqKey="Ross O" first="O. A." last="Ross">O. A. Ross</name><name sortKey="Searcy, J A" sort="Searcy, J A" uniqKey="Searcy J" first="J. A." last="Searcy">J. A. Searcy</name><name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A. J." last="Stoessl">A. J. Stoessl</name><name sortKey="Strongosky, A J" sort="Strongosky, A J" uniqKey="Strongosky A" first="A. J." last="Strongosky">A. J. Strongosky</name><name sortKey="Vilari O Guell, C" sort="Vilari O Guell, C" uniqKey="Vilari O Guell C" first="C." last="Vilari O-Güell">C. Vilari O-Güell</name><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z. K." last="Wszolek">Z. K. Wszolek</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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