| Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family. | |
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MedLine Citation:
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PMID: 16628604 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal-dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second-degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members. |
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Authors:
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Marcondes C França; Maria E Calcagnotto; Jaderson C da Costa; Iscia Lopes-Cendes |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Movement disorders : official journal of the Movement Disorder Society Volume: 21 ISSN: 0885-3185 ISO Abbreviation: Mov. Disord. Publication Date: 2006 Jul |
Date Detail:
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Created Date: 2006-08-28 Completed Date: 2006-12-15 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 8610688 Medline TA: Mov Disord Country: United States |
Other Details:
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Languages: eng Pagination: 1051-3 Citation Subset: IM |
Copyright Information:
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(c) 2006 Movement Disorder Society. |
Affiliation:
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Department of Neurology, Universidade Estadual de Campinas-UNICAMP, Campinas, Brazil. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Atrophy Brain Stem / pathology Brazil Cerebellum / pathology DNA Mutational Analysis* Diagnosis, Differential Electromyography Female Founder Effect Genetic Testing Humans Machado-Joseph Disease / diagnosis, genetics* Nerve Tissue Proteins / genetics* Nuclear Proteins / genetics* Pedigree Repressor Proteins / genetics* Spinocerebellar Ataxias / diagnosis, genetics* Tomography, X-Ray Computed Trinucleotide Repeats |
| Chemical | |
Reg. No./Substance:
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0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Repressor Proteins; 0/SCA2 protein; EC 3.4.22.-/ATXN3 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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