A Japanese family with early-onset ataxia with motor and sensory neuropathy

作者：Kobayashi Shunsuke^*; Takuma Hiroshi; Murayama Shigeo; Sakurai Masaki; Kanazawa Ichiro

来源：Journal of the Neurological Sciences, 2007, 254(1-2): 44-48.

DOI：10.1016/j.jns.2006.12.014

• cerebellar atrophy
• peripheral neuropathy
• autosomal recessive inheritance
• hyperglutamatemia

We report the case of a Japanese family with hereditary ataxia with peripheral neuropathy. Three affected siblings from this family exhibited very similar clinical features: teenage-onset, slowly progressive ataxia, followed by distal weakness, which developed after the age of 30 years. Magnetic resonance imaging studies showed marked atrophy in the cerebellar hemisphere and vermis, and a sural nerve biopsy revealed a marked reduction in the number of both myelinated and unmyelinated fibers. All patients exhibited hyperglutamatemia, but serum levels of albumin and lipid were normal. The clinicopathological and biochemical features of these cases suggest that they form a distinct entity of autosomal recessive hereditary ataxia with peripheral neuropathy.

• 出版日期2007-3-15
• 单位河北医科大学