A family with machado-joseph disease confirmed by gene analysis

ABSTRACT

The Machado Joseph disease(MJD) is a progressive neurodegenerative disease with an autosomal dominant inheritance. Patients affected by MJD may present variable combinations of cerebellar ataxia, ophthalmoplegia, pyramidal tract signs, extrapyramidal signs, and peripheral neuropathy. Once, MJD was thought to be limited to the Portuguese from Azores islands, However, since the association of expanded CAG trinucleotide repeat in chromosome 14q32.1 was identified in the MJD, the genetic study has enabled clinicians to make accurate diagnosis and the patients with MJD have been reported in the families from many different races. We report members of a family, presenting with variable combinations of gait ataxia, dysarthria, ophthalmoplegia, pyramidal and extrapyramidal signs. We performed a genetic study in 3 clinically affected and 4 asymptomatic family members. Five of the seven had abnormally expanded CAG repeat number (range 71-84) on the long arm of chromosome 14, compatible with MJD.