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- Title
A case of amyotrophic lateral sclerosis with intermediate ATXN- 1 CAG repeat expansion in a large family with spinocerebellar ataxia type 1.
- Authors
Spataro, Rossella; La Bella, Vincenzo
- Abstract
The article describes the case of a 47-year-old male worker with amyotrophic lateral sclerosis (ALS), carrying an intermediate ataxin-1 (ATXN-1) poly-Q expansion, who belonged to a large spinocerebellar ataxia type 1 (SCA1) family. It cites the patient's history of progressive weakness of the right hand and absence of symptoms of ataxia and his family's history for SCA1. The results of the genetic testing conducted in three other members of his family are also discussed.
- Subjects
ATAXIN-1; SPINOCEREBELLAR ataxia; MOTOR neuron diseases; GENETIC testing
- Publication
Journal of Neurology, 2014, Vol 261, Issue 7, p1442
- ISSN
0340-5354
- Publication type
Letter
- DOI
10.1007/s00415-014-7400-1