Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3041358 | Clinical Neurology and Neurosurgery | 2009 | 4 Pages |
Abstract
We report here, for the first time, the case of a 41-year-old man with both Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) and myotonic dystrophy type 1. The patient noted dysarthria at 14 years of age and unsteady gait at 30 years of age. Similar sized expansions of the CAG trinucleotide repeats in one allele of the ataxin-3 (ATXN3) gene were found in both the patient and his father, although in the other allele the length of the CAG repeats was shorter in the father compared with the patient. In the dystrophia myotonica protein kinase (DMPK) gene the CTG repeats were much more expanded in the patient compared with his father. Thus it is possible that, in the farther, the short CAG repeat in the non-expanded ATXN3 allele delayed the onset of cerebellar symptoms, and/or that the expanded CTG repeat in the DMPK gene in the patient accelerated the pathogenesis of MJD/SCA3.
Related Topics
Life Sciences
Neuroscience
Neurology
Authors
Shiroh Miura, Yasumasa Ohyagi, Taro Miike, Kazuhito Noda, Kyoko Motomura, Mitsuyoshi Ayabe, Hisamichi Aizawa, Takayuki Taniwaki,