ArticleOrphanet journal of rare diseases2021
HINT1 neuropathy in Norway: clinical, genetic and functional profiling.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 13 citations in OpenAlex.
- Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.Brain : a journal of neurology · 2026Article
- Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority.Genes · 2025Article
- Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.European journal of neurology · 2025Article
- Small Complex Rearrangement inGenes · 2024Article
- Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- The most common European HINT1 neuropathy variant phenotype and its case studies.Frontiers in neurology · 2023Article
- Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles.Frontiers in neurology · 2023Article
- HINT1 neuropathy: Expanding the genotype and phenotype spectrum.Clinical genetics · 2022Review
- HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.Orphanet journal of rare diseases · 2022Article
- Myasthenia gravis coexisting with HINT1-related motor axonal neuropathy without neuromyotonia: a case report.BMC neurology · 2022Article
- Rare among Rare: Phenotypes of Uncommon CMT Genotypes.Brain sciences · 2021Article
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal recessive axonal neuropathy with neuromyotonia has been linked to loss of functional HINT1. The disease is particularly prevalent in Central and South-East Europe, Turkey and Russia due to the high carrier frequency of the c.110G > C (p.Arg37Pro) founder variant.
resultsIn a cohort of 748 Norwegian patients with suspected peripheral neuropathy, we identified two seemingly unrelated individuals, compound heterozygous for a new variant (c.284G > A, p.Arg95Gln) and the most common pathogenic founder variant (c.110G > C, p.Arg37Pro) in the HINT1 gene. Probands presented with motor greater than sensory neuropathy of various onset, accompanied by muscle stiffness and cramps in the limbs. Furthermore, they displayed non-classical symptoms, including pain in the extremities and signs of central nervous system involvement. Haplotype analysis in both patients revealed a common chromosomal background for p.Arg95Gln; moreover, the variant was identified in Swedish carriers. Functional characterization in HINT1-knockout and patient-derived cellular models, and in HNT1-knockout yeast, suggested that the new variant is deleterious for the function of HINT1 and provided mechanistic insights allowing patient stratification for future treatment strategies.
conclusionOur findings broaden the genetic epidemiology of HINT1-neuropathy and have implications for molecular diagnostics of inherited peripheral neuropathies in Scandinavia.
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