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Electrophysiological findings in a Danish family with Machado‐Joseph disease
Author(s) -
ColdingJørgensen Eskild,
Sørensen Sven Asger,
Hasholt Lis,
Lauritzen Martin
Publication year - 1996
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199606)19:6<743::aid-mus9>3.0.co;2-a
Subject(s) - machado–joseph disease , electrophysiology , electromyography , somatosensory evoked potential , degenerative disease , neuroscience , sural nerve , disease , trinucleotide repeat expansion , psychology , medicine , central nervous system disease , pathology , biology , genetics , spinocerebellar ataxia , allele , gene
Machado—Joseph disease (MJD) is a neurodegenerative disorder with autosomal dominant inheritance. We have carried out electrophysiological studies in 8 individuals belonging to a Danish family with several affected members. Five had an expanded trinucleotide (CAG) repeat sequence in the MJD1 gene on chromosome 14, indicating MJD, while 3 unaffected individuals had normal repeat lengths. Three individuals with repeat expansion had clinical symptoms and signs of the Machado or “type III” phenotype, whereas 2 had slight symptoms and signs only. Electrophysiological evaluation included visual, somatosensory, and auditory brain stem evoked potentials, quantitative electromyography, and nerve conduction studies. In the patients with clinical MJD, evoked potential studies showed multimodal abnormalities, electromyography showed neurogenic changes, and nerve conduction studies showed signs of severe loss of motor and sensory nerve fibers. Of the 2 patients with slight symptoms and signs, 1 had evidence of peripheral and central affection, while the other had slight signs of a central affection. This study provides insight into the distribution and character of electrophysiological abnormalities in MJD of putative importance for an understanding of the pathogenesis of the disease, and for monitoring disease progress or the outcome of a possible treatment. © 1996 John Wiley & Sons, Inc.