論文

査読有り
2005年8月

Age associated axonal features in HNPP with 17p11.2 deletion in Japan

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
  • H Koike
  • M Hirayama
  • M Yamamoto
  • H Ito
  • N Hattori
  • F Umehara
  • K Arimura
  • S Ikeda
  • Y Ando
  • M Nakazato
  • R Kaji
  • K Hayasaka
  • M Nakagawa
  • S Sakoda
  • K Matsumura
  • O Onodera
  • M Baba
  • H Yasuda
  • T Saito
  • J Kira
  • K Nakashima
  • N Oka
  • G Sobue
  • 全て表示

76
8
開始ページ
1109
終了ページ
1114
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1136/jnnp.2004.048140
出版者・発行元
B M J PUBLISHING GROUP

Objective: To clarify age related changes in the clinicopathological features of hereditary neuropathy with liability to pressure palsy ( HNPP) in Japanese patients with deletion of 17p11.2, particularly concerning axonal abnormalities.
Methods: Forty eight proband patients from 48 HNPP families were assessed as to clinical, electrophysiological, and histopathological features, including age associated changes beyond those in controls.
Results: Motor conduction studies showed age associated deterioration of compound muscle action potentials in nerves vulnerable to repetitive compression (median, ulnar, and peroneal nerves), but not in others such as the tibial nerve. Sensory conduction studies revealed more profound reduction of action potentials than motor studies with little age related change. Large myelinated fibre loss was seen in the sural nerve irrespective of age at examination.
Conclusions: Irreversible axonal damage may occur at entrapment sites in motor nerves in HNPP patients, progressing with aging. Sensory nerves may show more profound axonal abnormality, but without age association. The electrophysiological features of HNPP are presumed to be a mixture of abnormalities occurring from early in life and acquired features caused by repetitive insults at entrapment sites. Unlike Charcot-Marie-Tooth disease type 1A, age associated axonal damage may not occur unless the nerves are subjected to compression.

リンク情報
DOI
https://doi.org/10.1136/jnnp.2004.048140
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/16024889
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000231075500016&DestApp=WOS_CPL
ID情報
  • DOI : 10.1136/jnnp.2004.048140
  • ISSN : 0022-3050
  • PubMed ID : 16024889
  • Web of Science ID : WOS:000231075500016

エクスポート
BibTeX RIS