Document Detail

Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family.
MedLine Citation:
PMID:  16628604     Owner:  NLM     Status:  MEDLINE    
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.
Marcondes C França; Maria E Calcagnotto; Jaderson C da Costa; Iscia Lopes-Cendes
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
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:
Created Date:  2006-08-28     Completed Date:  2006-12-15     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1051-3     Citation Subset:  IM    
Copyright Information:
(c) 2006 Movement Disorder Society.
Department of Neurology, Universidade Estadual de Campinas-UNICAMP, Campinas, Brazil.
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MeSH Terms
Brain Stem / pathology
Cerebellum / pathology
DNA Mutational Analysis*
Diagnosis, Differential
Founder Effect
Genetic Testing
Machado-Joseph Disease / diagnosis,  genetics*
Nerve Tissue Proteins / genetics*
Nuclear Proteins / genetics*
Repressor Proteins / genetics*
Spinocerebellar Ataxias / diagnosis,  genetics*
Tomography, X-Ray Computed
Trinucleotide Repeats
Reg. No./Substance:
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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