Open AccessPeripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia
Author(s) -
Yoshiko Furiya,
Minoru Hirano,
Masami Nomura,
Hidehiro Asai,
Takao Kiriyama,
S. Ueno
Publication year - 2009
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr.08.2008.0707
Subject(s) - medicine , peripheral neuropathy , cerebellar ataxia , ataxia , neurology , peripheral , pathology , dermatology , endocrinology , psychiatry , diabetes mellitus
Autosomal dominant cerebellar ataxia (ADCA) includes heterogeneous neurodegenerative diseases 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 searched for this mutation in168 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.