Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.

ABSTRACT:

Background

A 49-year-old male presented with late-onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed intra-axonal inclusions suggestive of polyglucosan bodies, raising the suspicion of adult polyglucosan bodies disease (OMIM 263570).

Methods and results

While known genes associated with polyglucosan bodies storage were negative, whole-exome sequencing identified an unreported monoallelic variant, c.397G>T (p.Val133Phe), in the histidyl-tRNA synthetase (HARS) gene. While we did not identify mutations in genes known to be associated with polygucosan body disease, whole-exome sequencing revealed an unreported monoallelic variant, c.397G>T in the histidyl-tRNA synthetase (HARS) gene, encoding a substitution (Val133P

SUBMITTER: Royer-Bertrand B 

PROVIDER: S-EPMC6562026 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature