JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES) ›› 2016, Vol. 54 ›› Issue (2): 63-67.doi: 10.6040/j.issn.1671-7554.0.2015.344

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Clinical, pathological and molecular biological study on a Chinese family of Spinocerebellar Ataxia type 6

LUAN Haihui*, XU Wei*, WANG Muchuan, WU Lin, WANG Lingling, MA Jun, LIU Yiming   

  1. Department of Neurology, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China
  • Received:2015-04-01 Online:2016-02-10 Published:2016-02-10

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Abstract: Objective To investigate the clinical, pathological, molecular biological features and the treatment outcome for a pedigree of spinocerebellar ataxia type 6(SCA 6). Methods Physical examinations and gene sequencing were performed. Muscular biopsies were performed in 3 patients. The expression of peroxisomeproliferators activatedreceptor-coactivator-1α(PGC-1α)in the myocyte was detected. Patients were treated with drugs, and the treatment outcome of 4 patients were measured with the scale for the assessment and rating of ataxia scores(SARA)and clinical global impressions scale(CGIS). Results The basic manifestations of the patients were slowly progressive cerebellar ataxia, mainly manifested unstable gait and difficulty in walking straight, and accompanied with nystagmus and dysarthria. nystagmus and dysarthria. An abnormal CAG repeats existed in the SCA6 gene. In muscle biopsies, 2 patients showed mild muscle damage with mitochondrial dysfunction and 1 showed normal. But PGC-1α expression decreased in all patients. The clinical symptoms of the patients were improved markedly. Conclusion Mitochondrial dysfunction and depression of PGC-1α exist in the muscle of SCA6 patients. These findings imply that impaired function of mitochondrial may play a critical role in the process of SCA, and the treatment with mitochondrial protective agents can exert therapeutic benefits.

Key words: Mitochondria, Peroxisome proliferator-activated receptor-γ, coactivator 1α, Muscle biopsy, Gene, Spinocerebellar ataxia

CLC Number: 

  • R744.7
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