Machado-Joseph disease (MJD) is a neurodegenerative disorder with auto-soma1 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 MJDl gene o
✦ LIBER ✦
Machado–Joseph disease in three Scandinavian families
✍ Scribed by T Løkkegaard; J.E Nielsen; L Hasholt; K Fenger; L Werdelin; L Tranebjærg; M Lauritzen; E Colding-Jørgensen; M Grønbech-Jensen; O.A Henriksen; S.A Sørensen
- Book ID
- 119469978
- Publisher
- Elsevier Science
- Year
- 1998
- Tongue
- English
- Weight
- 176 KB
- Volume
- 156
- Category
- Article
- ISSN
- 0022-510X
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## Abstract Dominantly inherited ataxias resulting from different gene mutations are difficult to distinguish based on clinical phenotypes. We believe the phenotypic variability within families can be a clue to clinical diagnosis. We illustrate the range of phenotypes extending from levodopa‐respon