Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene

Y Takiyama; K Sakoe; I Nakano; M Nishizawa

doi:10.1212/wnl.49.2.604

Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene

Neurology. 1997 Aug;49(2):604-6. doi: 10.1212/wnl.49.2.604.

Authors

Y Takiyama¹, K Sakoe, I Nakano, M Nishizawa

Affiliation

¹ Department of Neurology, Jichi Medical School, Tochigi, Japan.

PMID: 9270607
DOI: 10.1212/wnl.49.2.604

Abstract

We describe an unusual case of a patient with Machado-Joseph disease (MJD) who showed autonomic dysfunctions in addition to cerebellar ataxia. The number of CAG repeat units in the expanded allele of the MJD1 gene of the patient is smaller (56 CAG repeat units) than all previously reported numbers of CAG repeat units in expanded alleles. Thus, the findings in this patient indicate that the clinical features of MJD cover a wider spectrum than previously thought.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Alleles*
Autonomic Nervous System Diseases / genetics*
Base Sequence
Cerebellar Ataxia / genetics*
Genes*
Humans
Machado-Joseph Disease / diagnosis
Machado-Joseph Disease / genetics*
Magnetic Resonance Imaging
Male
Middle Aged
Repetitive Sequences, Nucleic Acid