Presumed rapid eye movement behavior disorder in Machado-Joseph disease (spinocerebellar ataxia type 3)
β Scribed by Joseph H. Friedman
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 47 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0885-3185
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β¦ Synopsis
Rapid eye movement behavior disorder (RBD) is a recently recognized sleep disorder in which patients are occasionally not paralyzed during the dream portions of sleep. When not idiopathic, this state has been associated primarily with parkinsonian conditions but also with a small number of medications and other neurodegenerative disorders. Dopamine deficiency may play a role in some patients. This report describes the occurrence of a syndrome that appears to be RBD in 6 of 7 patients followed with Spinocerebellar ataxia type 3 (Machado-Joseph disease). Polysomnography was normal in 1 patient. Two of these patients had had single photon emission computed tomographic imaging of the dopamine transporter 1 year previously.
π SIMILAR VOLUMES
An expanded and unstable CAG repeat in the coding region of the MJD1 gene is the mutation responsible for spinocerebellar ataxia 3/Machado-Joseph disease. In order to determine whether there was a higher degree of instability in affected regions, the size of the expanded CAG repeat was analyzed in d
## Abstract MachadoβJoseph disease (MJD)/Spinocerebellar Ataxia Type 3 (SCA3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a translated CAG repeat expansion. Here, we present the first prenatal diagnosis of MJD in Taiwan in a woman whose husba