期刊
BRAIN & DEVELOPMENT
卷 32, 期 7, 页码 592-594出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2009.08.003
关键词
Hereditary spastic paraplegia; SPG3A; Axonal neuropathy
Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. Most patients with an SPG3A mutation present with a pure phenotype and early-onset disease, although complicated forms with peripheral neuropathy are also reported. We report a new heterozygous S398F mutation in exon 12 of the SPG3A gene causing a very early-onset spastic paraplegia in association with motor axonal neuropathy in a 4-year-old girl resembling diplegic cerebral palsy. (C) 2009 Elsevier B.V. All rights reserved.
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