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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
Published on: March 4, 2014
Primary skeletal muscle involvement in chorea-acanthocytosis
Shinji Saiki1, Koichiro Sakai, Ken-ya Murata
1Department of Neurology, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0293, Japan. ss644@cam.ac.uk
Summary
Chorea-acanthocytosis (ChAc) involves skeletal muscle abnormalities, with altered chorein protein distribution observed in patient muscle fibers. These findings suggest ChAc may directly affect skeletal muscles, impacting their function.
Area of Science:
- Neurology
- Genetics
- Cell Biology
Background:
- Chorea-acanthocytosis (ChAc) is a hereditary neurodegenerative disorder.
- Skeletal muscle involvement in ChAc is suspected but poorly understood.
- The VPS13A gene mutation is linked to ChAc.
Purpose of the Study:
- To investigate chorein protein abnormalities in the skeletal muscles of ChAc patients.
- To compare skeletal muscle findings in ChAc with other hereditary choreic diseases.
- To elucidate the role of chorein in skeletal muscle pathology in ChAc.
Main Methods:
- Histological and immunohistochemical analysis of skeletal muscle biopsies.
- Utilized two novel anti-chorein antibodies for detection.
- Examined samples from ChAc patients, Huntington's disease, McLeod syndrome, and normal controls.
Main Results:
- Chorein immunoreactivity showed abnormal, discontinuous patterns along sarcolemmas in ChAc.
- Increased sarcoplasmic chorein accumulation was noted, particularly in type I muscle fibers in ChAc.
- Normal and other disease controls exhibited linear sarcolemmal and speckled sarcoplasmic chorein distribution.
Conclusions:
- Skeletal muscle chorein abnormalities are characteristic of Chorea-acanthocytosis.
- These findings suggest primary skeletal muscle involvement in ChAc pathogenesis.
- Chorein's altered distribution may underlie the muscle pathology observed in ChAc.
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