A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay
- 1 February 2006
- journal article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 77 (2) , 280-282
- https://doi.org/10.1136/jnnp.2005.077297
Abstract
The patient was a 39 year old woman who first walked at 12 months. Her gait was normal in early childhood. A spastic gait started at nine years of age, but she made no complaint about it for many years. After the age of 35 she complained of unsteadiness in her gait and clumsiness in her hands. Her gait disturbance progressed and she visited our clinic at the age of 37.Keywords
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