Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
Identifieur interne : 002D47 ( Main/Exploration ); précédent : 002D46; suivant : 002D48Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
Auteurs : Z. K. Wszolek [États-Unis] ; R. F. Pfeiffer [États-Unis] ; Y. Tsuboi [États-Unis] ; R. J. Uitti [États-Unis] ; R. D. Mccomb [États-Unis] ; A. J. Stoessl [Canada] ; A. J. Strongosky [États-Unis] ; A. Zimprich [Allemagne] ; B. Müller-Myhsok [Allemagne] ; M. J. Farrer [États-Unis] ; T. Gasser [Allemagne] ; D. B. Calne [Canada] ; D. W. Dickson [États-Unis]Source :
- Neurology [ 0028-3878 ] ; 2004.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARKS locus on chromosome 12.
Affiliations:
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K." last="Wszolek">Z. K. Wszolek</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R. F." last="Pfeiffer">R. F. Pfeiffer</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University of Tennessee Health Science Center</s1><s2>Memphis, TN</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Memphis, TN</wicri:noRegion></affiliation></author><author><name sortKey="Tsuboi, Y" sort="Tsuboi, Y" uniqKey="Tsuboi Y" first="Y." last="Tsuboi">Y. 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Mccomb</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pathology and Microbiology, University of Nebraska Medical Center</s1><s2>Omaha, NE</s2><s3>USA</s3><sZ>5 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Omaha, NE</wicri:noRegion></affiliation></author><author><name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A. J." last="Stoessl">A. J. Stoessl</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of British Columbia</s1><s2>Vancouver, British Columbia</s2><s3>CAN</s3><sZ>6 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Vancouver, British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Strongosky, A J" sort="Strongosky, A J" uniqKey="Strongosky A" first="A. J." last="Strongosky">A. J. 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Zimprich</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurology, Klinikum Grosshadern, LudwigMaximilians-Universitie</s1><s2>Munich</s2><s3>DEU</s3><sZ>8 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Muller Myhsok, B" sort="Muller Myhsok, B" uniqKey="Muller Myhsok B" first="B." last="Müller-Myhsok">B. Müller-Myhsok</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Computational Genetics Group, Max-Planck-Institute of Psychiatry</s1><s2>Munich</s2><s3>DEU</s3><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Farrer, M J" sort="Farrer, M J" uniqKey="Farrer M" first="M. J." last="Farrer">M. J. Farrer</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>10 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T." last="Gasser">T. Gasser</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurology, Klinikum Grosshadern, LudwigMaximilians-Universitie</s1><s2>Munich</s2><s3>DEU</s3><sZ>8 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Calne, D B" sort="Calne, D B" uniqKey="Calne D" first="D. B." last="Calne">D. B. Calne</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Pacific Parkinson's Research Centre, University Hospital</s1><s2>Vancouver, British Columbia</s2><s3>CAN</s3><sZ>12 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Vancouver, British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Dickson, D W" sort="Dickson, D W" uniqKey="Dickson D" first="D. W." last="Dickson">D. W. Dickson</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, FL</s2><s3>USA</s3><sZ>10 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Jacksonville, FL</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Neurology</title><title level="j" type="abbreviated">Neurology</title><idno type="ISSN">0028-3878</idno><imprint><date when="2004">2004</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Neurology</title><title level="j" type="abbreviated">Neurology</title><idno type="ISSN">0028-3878</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Anatomic pathology</term><term>Nervous system diseases</term><term>Parkinsonism</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term><term>Anatomopathologie</term><term>Système nerveux pathologie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Since the original 1995 report of a parkinsonian kindred, four individuals have been affected (mean age at onset, 65 years). All four had cardinal signs of Parkinson disease (PD) and good response to levodopa. Four autopsies showed neuronal loss and gliosis in the substantia nigra. Lewy bodies (LB) limited to brainstem nuclei were detected in one case, diffuse LB in the second, neurofibrillary tangles (NFT) without LB in the third, and neither NFT nor LB in the fourth. Genetic studies suggested linkage to the PARKS locus on chromosome 12.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Canada</li><li>États-Unis</li></country><region><li>Bavière</li><li>District de Haute-Bavière</li></region><settlement><li>Munich</li></settlement></list><tree><country name="États-Unis"><noRegion><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z. K." last="Wszolek">Z. K. Wszolek</name></noRegion><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="Mccomb, R D" sort="Mccomb, R D" uniqKey="Mccomb R" first="R. D." last="Mccomb">R. D. Mccomb</name><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R. F." last="Pfeiffer">R. F. Pfeiffer</name><name sortKey="Strongosky, A J" sort="Strongosky, A J" uniqKey="Strongosky A" first="A. J." last="Strongosky">A. J. Strongosky</name><name sortKey="Tsuboi, Y" sort="Tsuboi, Y" uniqKey="Tsuboi Y" first="Y." last="Tsuboi">Y. Tsuboi</name><name sortKey="Uitti, R J" sort="Uitti, R J" uniqKey="Uitti R" first="R. J." last="Uitti">R. J. Uitti</name></country><country name="Canada"><noRegion><name sortKey="Stoessl, A J" sort="Stoessl, A J" uniqKey="Stoessl A" first="A. J." last="Stoessl">A. J. Stoessl</name></noRegion><name sortKey="Calne, D B" sort="Calne, D B" uniqKey="Calne D" first="D. B." last="Calne">D. B. Calne</name></country><country name="Allemagne"><region name="Bavière"><name sortKey="Zimprich, A" sort="Zimprich, A" uniqKey="Zimprich A" first="A." last="Zimprich">A. Zimprich</name></region><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T." last="Gasser">T. Gasser</name><name sortKey="Muller Myhsok, B" sort="Muller Myhsok, B" uniqKey="Muller Myhsok B" first="B." last="Müller-Myhsok">B. Müller-Myhsok</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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