Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease.

doi:10.1016/0022-510x(95)00307-n

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Article

Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease.

Journal of the neurological sciences - 1 Mar 1996

Watanabe M, Abe K, Aoki M, Kameya T, Kaneko J, Shoji M, Ikeda M, Shizuka M, Ikeda Y, Iizuka T, Hirai S, Itoyama Y

Abstract excerpt

There are currently some types of autosomal dominant cerebellar ataxias such as Machado-Joseph disease (MJD), spinocerebellar ataxia types 1-5 (SCA1-5), or hereditary dentatorubropallidoluysian atrophy. It is very important for these ataxias to be clinically differentiated, but that is sometimes difficult. In particular, the differential diagnosis between MJD and SCA1 is thought to be the most difficult....

Topics

Adolescent
Adult
Age of Onset
Alleles
Cerebellar Ataxia
Female
Genome, Human
Humans
Machado-Joseph Disease
Magnetic Resonance Imaging
Male
Middle Aged
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid

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Identifiers

PMID: 8815156
DOI: 10.1016/0022-510x(95)00307-n

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