Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/196732
Type: Artigo de periódico
Title: Spinocerebellar Ataxia Types 2 And 3 Segregating Simultaneously In A Single Family.
Author: França, Marcondes C
Calcagnotto, Maria E
da Costa, Jaderson C
Lopes-Cendes, Iscia
Abstract: 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.
Subject: Adult
Atrophy
Brain Stem
Brazil
Cerebellum
Dna Mutational Analysis
Diagnosis, Differential
Electromyography
Female
Founder Effect
Genetic Testing
Humans
Machado-joseph Disease
Nerve Tissue Proteins
Nuclear Proteins
Pedigree
Repressor Proteins
Spinocerebellar Ataxias
Tomography, X-ray Computed
Trinucleotide Repeats
Rights: fechado
Identifier DOI: 10.1002/mds.20893
Address: http://www.ncbi.nlm.nih.gov/pubmed/16628604
Date Issue: 2006
Appears in Collections:Unicamp - Artigos e Outros Documentos

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