期刊
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
卷 23, 期 5-6, 页码 473-475出版社
TAYLOR & FRANCIS LTD
DOI: 10.1080/21678421.2021.1998538
关键词
Juvenile amyotrophic lateral sclerosis; sorbitol deshydrogenase; genetics; motor neurone disease
Mutations in the sorbitol dehydrogenase gene (SORD) have been associated with CMT, dHMN, and JALS. This case study reports a patient with a new mutation in SORD, expanding the clinical phenotype of SORD mutations.
Mutation in the sorbitol dehydrogenase gene (SORD) has been recently described to cause axonal Charcot-Marie-Tooth disease (CMT), intermediate CMT, and distal hereditary motor neuropathy (dHMN). We herein report the case of a 24-year-old patient diagnosed with juvenile amyotrophic lateral sclerosis (JALS) who carried the homozygous c.757delG mutation in SORD. No other pathogenic variant in frequent JALS-causative genes was found. Our findings expand the phenotype related to SORD mutation, a new and potentially treatable genetic disease.
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