Article
A kindred with cerebellar ataxia and thermoanalgesia.
Journal of neurology, neurosurgery, and psychiatry - 1 May 2009
Genis D, Ferrer I, Solé J Valls, Corral J, Volpini V, San Nicolás H, Gich J, Ramió-Torrentà L, Ferrándiz M, Puig J, Márquez F
Abstract excerpt
OBJECTIVE: To characterise the clinical, neurophysiological, neuropathological and genetic features of a family with cerebellar autosomal dominant ataxia. DESIGN: Patients were submitted to clinical, neuroradiological and neurophysiological examinations. Molecular studies were undertaken to exclude SCAs 1-3, 6-8, 12 and 17. Studies were performed to rule out linkage to SCA4 on chromosome 16, and for all still...
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