Machado-Joseph disease: an autosomal dominant motor system degeneration.
Identifieur interne : 004D38 ( PubMed/Corpus ); précédent : 004D37; suivant : 004D39Machado-Joseph disease: an autosomal dominant motor system degeneration.
Auteurs : R N RosenbergSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1992.
English descriptors
- KwdEn :
- Chromosome Aberrations (diagnosis), Chromosome Aberrations (genetics), Chromosome Disorders, Genes, Dominant (genetics), Genetics, Population, Humans, Neurologic Examination, Olivopontocerebellar Atrophies (classification), Olivopontocerebellar Atrophies (diagnosis), Olivopontocerebellar Atrophies (genetics), Pedigree, Phenotype, Spinocerebellar Degenerations (classification), Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics).
- MESH :
- classification : Olivopontocerebellar Atrophies, Spinocerebellar Degenerations.
- diagnosis : Chromosome Aberrations, Olivopontocerebellar Atrophies, Spinocerebellar Degenerations.
- genetics : Chromosome Aberrations, Genes, Dominant, Olivopontocerebellar Atrophies, Spinocerebellar Degenerations.
- Chromosome Disorders, Genetics, Population, Humans, Neurologic Examination, Pedigree, Phenotype.
Abstract
Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable expression. Type one patients have early onset with a rapid progression of symptoms including spasticity, rigidity and myokymia. Type two patients are the most common phenotype with ataxia and spasticity. Type three patients develop progressive ataxia with variable amyotrophy. All patients have ophthalmoparesis and normal mental status. The neuropathology consists of neuronal loss and gliosis in the substantia nigra, motor cranial nuclei, dentate nucleus of the cerebellum, and variable neuronal loss with gliosis in the cerebellar cortex and neostriatum. The cerebral cortex is normal histologically. The inferior olivary nuclei are normal, thus separating this disease from olivopontocerebellar atrophy (OPCA). The disease has a worldwide distribution including families described in Portugal, the Azores, Spain, Italy, United States, Canada, Brazil, China, Taiwan, and Japan. The gene has not been mapped for this disease but the locus on chromosome 6p mapped for most families with OPCA has been excluded for this disorder.
DOI: 10.1002/mds.870070302
PubMed: 1620135
Links to Exploration step
pubmed:1620135Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Machado-Joseph disease: an autosomal dominant motor system degeneration.</title><author><name sortKey="Rosenberg, R N" sort="Rosenberg, R N" uniqKey="Rosenberg R" first="R N" last="Rosenberg">R N Rosenberg</name><affiliation><nlm:affiliation>Department of Neurology, University of Texas Southwestern Medical Center, Southwestern Medical School, Dallas 75235.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1992">1992</date><idno type="RBID">pubmed:1620135</idno><idno type="pmid">1620135</idno><idno type="doi">10.1002/mds.870070302</idno><idno type="wicri:Area/PubMed/Corpus">004D38</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Machado-Joseph disease: an autosomal dominant motor system degeneration.</title><author><name sortKey="Rosenberg, R N" sort="Rosenberg, R N" uniqKey="Rosenberg R" first="R N" last="Rosenberg">R N Rosenberg</name><affiliation><nlm:affiliation>Department of Neurology, University of Texas Southwestern Medical Center, Southwestern Medical School, Dallas 75235.</nlm:affiliation></affiliation></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>Chromosome Aberrations (diagnosis)</term><term>Chromosome Aberrations (genetics)</term><term>Chromosome Disorders</term><term>Genes, Dominant (genetics)</term><term>Genetics, Population</term><term>Humans</term><term>Neurologic Examination</term><term>Olivopontocerebellar Atrophies (classification)</term><term>Olivopontocerebellar Atrophies (diagnosis)</term><term>Olivopontocerebellar Atrophies (genetics)</term><term>Pedigree</term><term>Phenotype</term><term>Spinocerebellar Degenerations (classification)</term><term>Spinocerebellar Degenerations (diagnosis)</term><term>Spinocerebellar Degenerations (genetics)</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>Chromosome Aberrations</term><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>Chromosome Disorders</term><term>Genetics, Population</term><term>Humans</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable expression. Type one patients have early onset with a rapid progression of symptoms including spasticity, rigidity and myokymia. Type two patients are the most common phenotype with ataxia and spasticity. Type three patients develop progressive ataxia with variable amyotrophy. All patients have ophthalmoparesis and normal mental status. The neuropathology consists of neuronal loss and gliosis in the substantia nigra, motor cranial nuclei, dentate nucleus of the cerebellum, and variable neuronal loss with gliosis in the cerebellar cortex and neostriatum. The cerebral cortex is normal histologically. The inferior olivary nuclei are normal, thus separating this disease from olivopontocerebellar atrophy (OPCA). The disease has a worldwide distribution including families described in Portugal, the Azores, Spain, Italy, United States, Canada, Brazil, China, Taiwan, and Japan. The gene has not been mapped for this disease but the locus on chromosome 6p mapped for most families with OPCA has been excluded for this disorder.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">1620135</PMID><DateCreated><Year>1992</Year><Month>08</Month><Day>04</Day></DateCreated><DateCompleted><Year>1992</Year><Month>08</Month><Day>04</Day></DateCompleted><DateRevised><Year>2005</Year><Month>11</Month><Day>16</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>7</Volume><Issue>3</Issue><PubDate><Year>1992</Year></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Machado-Joseph disease: an autosomal dominant motor system degeneration.</ArticleTitle><Pagination><MedlinePgn>193-203</MedlinePgn></Pagination><Abstract><AbstractText>Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable expression. Type one patients have early onset with a rapid progression of symptoms including spasticity, rigidity and myokymia. Type two patients are the most common phenotype with ataxia and spasticity. Type three patients develop progressive ataxia with variable amyotrophy. All patients have ophthalmoparesis and normal mental status. The neuropathology consists of neuronal loss and gliosis in the substantia nigra, motor cranial nuclei, dentate nucleus of the cerebellum, and variable neuronal loss with gliosis in the cerebellar cortex and neostriatum. The cerebral cortex is normal histologically. The inferior olivary nuclei are normal, thus separating this disease from olivopontocerebellar atrophy (OPCA). The disease has a worldwide distribution including families described in Portugal, the Azores, Spain, Italy, United States, Canada, Brazil, China, Taiwan, and Japan. The gene has not been mapped for this disease but the locus on chromosome 6p mapped for most families with OPCA has been excluded for this disorder.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Rosenberg</LastName><ForeName>R N</ForeName><Initials>RN</Initials><AffiliationInfo><Affiliation>Department of Neurology, University of Texas Southwestern Medical Center, Southwestern Medical School, Dallas 75235.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>UNITED STATES</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002869">Chromosome Aberrations</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D025063">Chromosome Disorders</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005799">Genes, Dominant</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005828">Genetics, Population</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009460">Neurologic Examination</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009849">Olivopontocerebellar Atrophies</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000145">classification</QualifierName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013132">Spinocerebellar Degenerations</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000145">classification</QualifierName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList><NumberOfReferences>36</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1992</Year><Month>1</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1992</Year><Month>1</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1992</Year><Month>1</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">1620135</ArticleId><ArticleId IdType="doi">10.1002/mds.870070302</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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