ArticleJournal of neurology2015
Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.
Article in Journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- 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
- 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
- HINT1 in Neuropsychiatric Diseases: A Potential Neuroplastic Mediator.Neural plasticity · 2017Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Biallelic mutations in the HINT1 gene were recently identified as the cause of axonal neuropathy with neuromyotonia. It has been suggested that HINT1 mutations may indeed account for 11% of all inherited neuropathies with autosomal recessive inheritance. However, 81% of patients HINT1-related neuropathies reported to date are originally from five European countries and the global prevalence of the disorder is still unknown. In our study, we aimed to determine the frequency of HINT1 mutations by direct sequencing in a cohort of 152 patients with inherited neuropathies from the UK and Spain, where no cases have been described to date. We failed to identify patients with clinical myotonia, neuromyotonia or pathogenic mutations in HINT1. Our results support that HINT1-related neuropathies are not homogeneously distributed among European populations, which may be explained by founder effects. This geographical variability also underlines the importance of considering the ethnic background when screening for mutations in neuropathy-related genes.
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Registered trials
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