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Primary skeletal muscle involvement in chorea-acanthocytosis

✍ Scribed by Shinji Saiki; Koichiro Sakai; Ken-Ya Murata; Misuzu Saiki; Megumi Nakanishi; Yoko Kitagawa; Muichi Kaito; Yuichiro Gondo; Toshihide Kumamoto; Makoto Matsui; Nobutaka Hattori; Genjiro Hirose

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
150 KB
Volume
22
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

Chorea‐acanthocytosis (ChAc) is a hereditary disease characterized by involuntary movements and amyotrophy with elevation of serum creatine kinase. Although skeletal muscle involvement in ChAc has been suggested, the mechanism remains unclear. To investigate chorein abnormalities of the skeletal muscles of ChAc patients with an apparently heterozygous VPS13A mutation compared with those of other hereditary choreic diseases, we performed histological and immunohistochemical studies of the skeletal muscles from 3 ChAc, 1 Huntington's disease (HD), 1 McLeod syndrome (MLS), and 1 normal control (NC) with 2 originally generated anti‐chorein antibodies. Chorein immunoreactivities in HD, MLS, and NC were found linearly along the sarcolemma and appeared as speckles in the sarcoplasma, but those in ChAc were uneven and discontinuous along the sarcolemmas and increased in the sarcoplasma especially in type I fibers. This histological observation suggests chorein abnormalities of skeletal muscles might be associated with primary involvement of skeletal muscles in this disorder. © 2007 Movement Disorder Society

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