Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia.

摘要

Autosomal dominant cerebellar ataxia (ADCA) includes heterogeneous neurodegenerative dis-eases with or without various neurological signs and symptoms. Ishikawa et al reported a new type of ADCA, named chromosome16q22.1 linked ADCA (16q-ADCA), attributed to a heterozygous C->T substitution in the 5' non-coding region of puratrophin-1 gene. We searchedfor this mutation inl68 patients from 129 families with ADCA and found it in six patients. The patients generally showed late onset pure cerebellar ataxia similar to previous reports but two had mild axonal neuropathy and orthostatic hypotension (OH). Our results suggest that 16q-ADCA shows a broader clinical presentation than previously thought.