Bi Hongyan, Gao Yunying, Yao Sheng, Dong Mingrui, Headley Alexander Peter, Yuan Yun
Department of Neurology, Peking University First Hospital, Beijing, China.
Neuropathology. 2007 Oct;27(5):429-33. doi: 10.1111/j.1440-1789.2007.00808.x.
Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disorder of the peripheral nervous system characterized by marked progressive sensory loss, with variable autonomic and motor involvement. The HSAN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long chain base subunit 1 (SPTLC1). Sequencing in HSAN I families have previously identified mutations in exons 5, 6 and 13 of this gene. Here we report the clinical, electrophysiological and pathological findings of a proband in a Chinese family with HSAN I. The affected members showed almost typical clinical features. Electrophysiological findings showed an axonal, predominantly sensory, neuropathy with motor and autonomic involvement. Sural nerve biopsy showed loss of myelinated and unmyelinated fibers. SPTLC1 mutational analysis revealed the C133W mutation, a mutation common in British HSAN I families.
遗传性感觉和自主神经病变I型（HSAN I）是一种常染色体显性外周神经系统疾病，其特征为显著的进行性感觉丧失，并伴有自主神经和运动功能的不同程度受累。HSAN I基因座定位于9号染色体q22.1-22.3，由编码丝氨酸棕榈酰转移酶长链碱基亚基1（SPTLC1）的基因突变引起。此前对HSAN I家族的测序已在该基因的外显子5、6和13中鉴定出突变。在此，我们报告一个中国HSAN I家系中先证者的临床、电生理和病理结果。受累成员表现出几乎典型的临床特征。电生理结果显示为轴索性、以感觉为主的神经病变，并伴有运动和自主神经受累。腓肠神经活检显示有髓鞘和无髓鞘纤维缺失。SPTLC1突变分析揭示了C133W突变，这是在英国HSAN I家族中常见的一种突变。
