Journal
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
Volume 24, Issue 1, Pages 156-160Publisher
WILEY
DOI: 10.1111/jns.12289
Keywords
ARSs; autosomal dominant intermediate CMT; nerve biopsy; GARS; missense mutation
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Funding
- Ministry of Education, Culture, Sports, Science, and Technology, Japan [JSPS KAKENHI JP18K07495]
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We report the first family with a glycyl-tRNA synthetase (GARS) mutation with autosomal dominant intermediate Charcot-Marie-Tooth disease (DI-CMT). The proband and the proband's father presented with gait disturbance and hand weakness. Both patients displayed moderately decreased conduction velocities (MNCV) (ranging from 29.2 to 37.8 m/s). A sural nerve biopsy of the father revealed evidence of both axonal loss and demyelination. On exome sequencing, in both the proband and his father, we identified a novel missense mutation (c.643G > C, p.Asp215His) in the GARS gene in a heterozygous state, which is considered to be pathogenic for this DI-CMT family. The present study broadens current knowledge about intermediate CMT and the phenotypic spectrum of defects associated with GARS.
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