ArticleNeurogenetics2015
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.
Article in Neurogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 42 citations in OpenAlex.
- Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease.Journal of the peripheral nervous system : JPNS · 2026Article
- Small Complex Rearrangement inGenes · 2024Article
- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
- The Many Faces of Histidine Triad Nucleotide Binding Protein 1 (HINT1).ACS pharmacology & translational science · 2023Review
- 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
- The most common European HINT1 neuropathy variant phenotype and its case studies.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
- HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.Molecular genetics & genomic medicine · 2021Article
- Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients.Scientific reports · 2021Article
- HINT1 neuropathy in Norway: clinical, genetic and functional profiling.Orphanet journal of rare diseases · 2021Article
- Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.Frontiers in cell and developmental biology · 2021Article
- Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.Neurogenetics · 2020Article
- HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.Molecular biology reports · 2020Article
- Genetic Fine Mapping and Genomic Annotation Defines Causal Mechanisms at A Novel Colorectal Cancer Susceptibility Locus in Han Chinese.Journal of Cancer · 2020Article
- Axonal neuropathy with neuromyotonia: there is a HINT.Brain : a journal of neurology · 2017Review
- HINT1 in Neuropsychiatric Diseases: A Potential Neuroplastic Mediator.Neural plasticity · 2017Review
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.Orphanet journal of rare diseases · 2016Article
- Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.Journal of neurology · 2015Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the HINT1 gene were recently discovered as being the major cause of autosomal recessive axonal neuropathy with neuromyotonia. This combination was clinically recognized and described previously in a few reports but is generally unknown. We aimed to establish the importance of HINT1 mutations as the cause of hereditary neuropathy and particularly hereditary motor neuropathy/axonal Charcot-Marie-Tooth (HMN/CMT2) among Czech patients. Overall, mutations in the HINT1 gene seem to be a surprisingly frequent cause of inherited neuropathy in our group of patients. Biallelic pathogenic mutations were found in 21 patients from 19 families. The prevalent mutation in the Czech population is the p.R37P (95% of pathogenic alleles). Clinically, all patients with biallelic mutations presented with early onset of symptoms at the end of the first decade. Foot/toe extension weakness to plegia was present in almost all patients. Neuromyotonia was present in all but two patients. However, it had been properly recognized in only three patients prior to molecular genetic diagnosis. HINT1 mutations seem to be one of the most frequent causes of inherited neuropathy and are probably the most frequent cause of HMN in Czech patients. We suggest all HMN/CMT2 patients be tested for the presence of the prevalent mutation, the p.R37P.
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