Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies.
Identifieur interne : 001453 ( Ncbi/Checkpoint ); précédent : 001452; suivant : 001454Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies.
Auteurs : L. Sudarsky [États-Unis] ; L. Corwin ; D M DawsonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1992.
English descriptors
- KwdEn :
- Adolescent, Adult, Child, Chromosome Aberrations (genetics), Chromosome Disorders, Female, Genes, Dominant (genetics), Genetics, Population, Humans, Male, Middle Aged, Neurologic Examination, New England, Olivopontocerebellar Atrophies (classification), Olivopontocerebellar Atrophies (diagnosis), Olivopontocerebellar Atrophies (genetics), Phenotype, Retrospective Studies, Spinocerebellar Degenerations (classification), Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics).
- MESH :
- geographic : New England.
- classification : Olivopontocerebellar Atrophies, Spinocerebellar Degenerations.
- diagnosis : Olivopontocerebellar Atrophies, Spinocerebellar Degenerations.
- genetics : Chromosome Aberrations, Genes, Dominant, Olivopontocerebellar Atrophies, Spinocerebellar Degenerations.
- Adolescent, Adult, Child, Chromosome Disorders, Female, Genetics, Population, Humans, Male, Middle Aged, Neurologic Examination, Phenotype, Retrospective Studies.
Abstract
Experience is described in 25 patients from southern New England with Machado-Joseph Disease, examined serially at annual screening clinics. The disorder is dominantly inherited, with a wide range of phenotypic variation. Core clinical features described include ataxia, nystagmus, dysarthria, facial fasciculations, and lid retraction, producing a characteristic staring expression. In addition, young onset patients have spasticity, extrapyramidal rigidity, and dystonic manifestations. Late onset patients often have distal atrophy and sensory loss. Postural instability is often an early feature. We discuss the distinction of this entity from the olivopontocerebellar atrophies.
DOI: 10.1002/mds.870070303
PubMed: 1620136
Affiliations:
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pubmed:1620136Le document en format XML
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Corwin</name></author><author><name sortKey="Dawson, D M" sort="Dawson, D M" uniqKey="Dawson D" first="D M" last="Dawson">D M Dawson</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1992">1992</date><idno type="RBID">pubmed:1620136</idno><idno type="pmid">1620136</idno><idno type="doi">10.1002/mds.870070303</idno><idno type="wicri:Area/PubMed/Corpus">004D37</idno><idno type="wicri:Area/PubMed/Curation">004D37</idno><idno type="wicri:Area/PubMed/Checkpoint">004D32</idno><idno type="wicri:Area/Ncbi/Merge">001453</idno><idno type="wicri:Area/Ncbi/Curation">001453</idno><idno type="wicri:Area/Ncbi/Checkpoint">001453</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies.</title><author><name sortKey="Sudarsky, L" sort="Sudarsky, L" uniqKey="Sudarsky L" first="L" last="Sudarsky">L. Sudarsky</name><affiliation wicri:level="2"><nlm:affiliation>Neurology Division, Brigham and Women's Hospital, West Roxbury, Massachusetts.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Neurology Division, Brigham and Women's Hospital, West Roxbury</wicri:cityArea></affiliation></author><author><name sortKey="Corwin, L" sort="Corwin, L" uniqKey="Corwin L" first="L" last="Corwin">L. Corwin</name></author><author><name sortKey="Dawson, D M" sort="Dawson, D M" uniqKey="Dawson D" first="D M" last="Dawson">D M Dawson</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="1992" type="published">1992</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Chromosome Aberrations (genetics)</term><term>Chromosome Disorders</term><term>Female</term><term>Genes, Dominant (genetics)</term><term>Genetics, Population</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>New England</term><term>Olivopontocerebellar Atrophies (classification)</term><term>Olivopontocerebellar Atrophies (diagnosis)</term><term>Olivopontocerebellar Atrophies (genetics)</term><term>Phenotype</term><term>Retrospective Studies</term><term>Spinocerebellar Degenerations (classification)</term><term>Spinocerebellar Degenerations (diagnosis)</term><term>Spinocerebellar Degenerations (genetics)</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>New England</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Olivopontocerebellar Atrophies</term><term>Spinocerebellar Degenerations</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Olivopontocerebellar Atrophies</term><term>Spinocerebellar Degenerations</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosome Aberrations</term><term>Genes, Dominant</term><term>Olivopontocerebellar Atrophies</term><term>Spinocerebellar Degenerations</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Chromosome Disorders</term><term>Female</term><term>Genetics, Population</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Phenotype</term><term>Retrospective Studies</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Experience is described in 25 patients from southern New England with Machado-Joseph Disease, examined serially at annual screening clinics. The disorder is dominantly inherited, with a wide range of phenotypic variation. Core clinical features described include ataxia, nystagmus, dysarthria, facial fasciculations, and lid retraction, producing a characteristic staring expression. In addition, young onset patients have spasticity, extrapyramidal rigidity, and dystonic manifestations. Late onset patients often have distal atrophy and sensory loss. Postural instability is often an early feature. We discuss the distinction of this entity from the olivopontocerebellar atrophies.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Massachusetts</li></region></list><tree><noCountry><name sortKey="Corwin, L" sort="Corwin, L" uniqKey="Corwin L" first="L" last="Corwin">L. Corwin</name><name sortKey="Dawson, D M" sort="Dawson, D M" uniqKey="Dawson D" first="D M" last="Dawson">D M Dawson</name></noCountry><country name="États-Unis"><region name="Massachusetts"><name sortKey="Sudarsky, L" sort="Sudarsky, L" uniqKey="Sudarsky L" first="L" last="Sudarsky">L. Sudarsky</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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