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BMJ Case Reports 2009; doi:10.1136/bcr.08.2008.0707
  • Findings that shed new light on the possible pathogenesis of a disease or an adverse effect

Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia

  1. Yoshiko Furiya1,
  2. Makito Hirano1,
  3. Masami Nomura2,
  4. Hidehiro Asai1,
  5. Takao Kiriyama1,
  6. Satoshi Ueno1
  1. 1
    Nara Medical University, Neurology, Nara, 840 Shijo-cho, Kashihara-shi, Nara, 6348522, Japan
  2. 2
    Kainan Hospital Aichi Prefectural Welfare Federation of Agricultural Cooperatives, Neurology, 396 Oaza-maegasushinden, Aza-minamihonda, Yatomi-cho, Kaifu-gun, Aichi, 4988502, Japan
  1. yoshikof{at}naramed-u.ac.jp
  • Published 2 February 2009

Summary

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.

Footnotes

  • Competing interests: None.

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