A Greek‐American kindred with autosomal dominant, levodopa‐responsive parkinsonism and anticipation
Identifieur interne : 002368 ( Main/Exploration ); précédent : 002367; suivant : 002369A Greek‐American kindred with autosomal dominant, levodopa‐responsive parkinsonism and anticipation
Auteurs : Markopoulou [États-Unis] ; Z. K. Wszolek [États-Unis] ; R. F. Pfeiffer [États-Unis]Source :
- Annals of Neurology [ 0364-5134 ] ; 1995-09.
Abstract
Interest is increasing concerning the role of genetic factors in the etiology of Parkinson's disease. We report the analysis of a Greek‐American kindred with levodopa‐responsive parkinsonism. Of the 98 individuals present in six generations of this pedigree, 16 individuals in three successive generations have developed parkinsonism. Affected members were examined both in Greece and in the United States. The clinical presentation consisted of asymmetric rigidity, resting tremor, bradykinesia, and postural instability, and symptoms were responsive to levodopa. The disease appears to be inherited in an autosomal dominant manner. The inheritance pattern and the development of parkinsonism in successive generations on two continents challenges environmental factors as the primary cause in the pathogenesis of parkinsonism in this kindred. Anticipation is present in this pedigree. The affected members in the third generation developed symptoms at ages 50 to 71, in the fourth at ages 40 to 55, and in the fifth at age 31 years. This is another example of a neurodegenerative disease with autosomal dominant inheritance and anticipation. A molecular genetic analysis of this pedigree is in progress.
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DOI: 10.1002/ana.410380306
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Pfeiffer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>Department of Neurology, University of Tennessee, Memphis</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1995-09">1995-09</date><biblScope unit="volume">38</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="373">373</biblScope><biblScope unit="page" to="378">378</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">61F610E5F86AE6A7E6168010BD93BF618A72FFB9</idno><idno type="DOI">10.1002/ana.410380306</idno><idno type="ArticleID">ANA410380306</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Interest is increasing concerning the role of genetic factors in the etiology of Parkinson's disease. We report the analysis of a Greek‐American kindred with levodopa‐responsive parkinsonism. Of the 98 individuals present in six generations of this pedigree, 16 individuals in three successive generations have developed parkinsonism. Affected members were examined both in Greece and in the United States. The clinical presentation consisted of asymmetric rigidity, resting tremor, bradykinesia, and postural instability, and symptoms were responsive to levodopa. The disease appears to be inherited in an autosomal dominant manner. The inheritance pattern and the development of parkinsonism in successive generations on two continents challenges environmental factors as the primary cause in the pathogenesis of parkinsonism in this kindred. Anticipation is present in this pedigree. The affected members in the third generation developed symptoms at ages 50 to 71, in the fourth at ages 40 to 55, and in the fifth at age 31 years. This is another example of a neurodegenerative disease with autosomal dominant inheritance and anticipation. A molecular genetic analysis of this pedigree is in progress.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Nebraska</li><li>Tennessee</li></region></list><tree><country name="États-Unis"><region name="Nebraska"><name sortKey="Markopoulou" sort="Markopoulou" uniqKey="Markopoulou" last="Markopoulou">Markopoulou</name></region><name sortKey="Pfeiffer, R F" sort="Pfeiffer, R F" uniqKey="Pfeiffer R" first="R. F." last="Pfeiffer">R. F. Pfeiffer</name><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z. K." last="Wszolek">Z. K. Wszolek</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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