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

Abstract excerpt

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: ) gene. While we did not identify mutations in genes known to be associated with polygucosan body...

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