Homozygous inheritance of the Machado-Joseph disease gene
โ Scribed by Dr. Anthony E. Lang; E. A. Rogaeva; T. Tsuda; J. Hutterer; Peter St George-Hyslop
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 524 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
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## Abstract Although ataxia is the most distressing manifestation of MachadoโJoseph disease (MJD), little is known about its natural history. Therefore, we prospectively followed a cohort of patients with MJD for 13 months to characterize the progression of ataxia and identify its contributory fact
## Abstract We report on a patient with genetically proven MachadoโJoseph Disease (MJD) presenting with signs indistinguishable from Parkinson's disease (PD), including levodopa response and typical levodopaโinduced motor fluctuations. Only after 10 years of prolonged benefit from levodopa and diff