Article
Genetic polymorphism of MJD1 alleles and molecular analysis of SCA3 patients from Rio de Janeiro, Brazil.
Genetic testing - 1 Jan 2004
Gestinari Raquel S, Duarte Stenio F P, Pimentel Márcia M G, Lima Marcelo A Costa
Abstract excerpt
Spinocerebellar ataxia type 3 is the most common form of autosomal dominant cerebellar ataxia. It is a severe progressive neurological disorder caused by an expansion of an exonic CAG repeat of the MJD1 gene. The repeated sequence is polymorphic among both normal individuals and patients. In general, expanded alleles are paternally inherited and the disorder exhibits anticipation. We performed a PCR-based study...
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