Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants.

J Peripher Nerv SystSep 1, 2026
Case ReportMedical GeneticsNeurologyOpen access

Christina Del Greco, Allison R Cale, Karl Haeberlein et al.

✦ AI-curated · Sources linked

Case in brief

A 25-year-old male presented with Charcot-Marie-Tooth disease type 1 and mild intellectual disability. Genetic analysis revealed he was compound heterozygous for two pathogenic HARS1 variants: a maternally inherited p.Q410* and a de novo p.R375C. Functional assays indicated loss-of-function for both variants, supporting their role in the patient's complex neuropathy with demyelinating features.

Diagnostic / clinical pearl

Clinicians should consider the possibility of biallelic HARS1 variants in patients presenting with neuropathy and associated phenotypes, as this case illustrates the genetic complexity and phenotypic variability of HARS1-related disorders.

Source

PubMed · PMID 42593351Free full text on PubMed Central

Published in J Peripher Nerv Syst. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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