Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.
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.
Bi
Hongyan
H
Department of Neurology, Peking University First Hospital, Beijing, China.
Gao
Yunying
Y
Yao
Sheng
S
Dong
Mingrui
M
Headley
Alexander Peter
AP
Yuan
Yun
Y
D000328:Adult; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004594:Electrophysiology; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D051102:Serine C-Palmitoyltransferase / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology* / Q000503:physiopathology
C487784:SPTLC1 protein, human; D051102:Serine C-Palmitoyltransferase