ReviewBrain : a journal of neurology2017
Axonal neuropathy with neuromyotonia: there is a HINT.
Review in Brain : a journal of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 47 citations in OpenAlex.
- Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.Journal of the peripheral nervous system : JPNS · 2026Article
- Targeting OTUD7A-HINT1 deubiquitination activates mTOR signaling for CNS regeneration.Cell death & disease · 2026Article
- 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
- Generalized Peripheric Nerve Hyperexcitability with Neuropathy: Case Series with Long-Term Outcome.Noro psikiyatri arsivi · 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
- Article
- HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.Orphanet journal of rare diseases · 2022Article
- A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature.Acta neurologica Belgica · 2022Review
- Myasthenia gravis coexisting with HINT1-related motor axonal neuropathy without neuromyotonia: a case report.BMC neurology · 2022Article
- Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous MarriagesBalkan medical journal · 2022Article
- SepA EnhancesmBio · 2021Article
- Rare among Rare: Phenotypes of Uncommon CMT Genotypes.Brain sciences · 2021Article
- Sca1Stem cell reviews and reports · 2021Article
- HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.Molecular genetics & genomic medicine · 2021Article
- Human HINT1 Mutant Proteins that Cause Axonal Motor Neuropathy Exhibit Anomalous Interactions with Partner Proteins.Molecular neurobiology · 2021Article
- HINT1 neuropathy in Norway: clinical, genetic and functional profiling.Orphanet journal of rare diseases · 2021Article
- Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.Neurogenetics · 2020Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recessive mutations in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1) were recently shown to cause a motor-predominant Charcot-Marie-Tooth neuropathy. About 80% of the patients exhibit neuromyotonia, a striking clinical and electrophysiological hallmark that can help to distinguish this disease and to guide diagnostic screening. HINT1 neuropathy has worldwide distribution and is particularly prevalent in populations inhabiting central and south-eastern Europe. With 12 different mutations identified in more than 60 families, it ranks among the most common subtypes of axonal Charcot-Marie-Tooth neuropathy. This article provides an overview of the present knowledge on HINT1 neuropathy with the aim to increase awareness and spur interest among clinicians and researchers in the field. We propose diagnostic guidelines to recognize and differentiate this entity and suggest treatment strategies to manage common symptoms. As a recent player in the field of hereditary neuropathies, the role of HINT1 in peripheral nerves is unknown and the underlying disease mechanisms are unexplored. We provide a comprehensive overview of the structural and functional characteristics of the HINT1 protein that may guide further studies into the molecular aetiology and treatment strategies of this peculiar Charcot-Marie-Tooth subtype.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.