The most common European HINT1 neuropathy variant phenotype and its case studies

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dc.contributor.authorRozevska, Marija
dc.contributor.authorRots, Dmitrijs
dc.contributor.authorGailite, Linda
dc.contributor.authorLinde, Ronalds
dc.contributor.authorMironovs, Stanislavs
dc.contributor.authorTimcenko, Maksims
dc.contributor.authorLinovs, Viktors
dc.contributor.authorLocmele, Dzintra
dc.contributor.authorMicule, Ieva
dc.contributor.authorLace, Baiba
dc.contributor.authorKenina, Viktorija
dc.contributor.institutionScientific Laboratory of Molecular Genetics
dc.date.accessioned2023-06-16T11:10:01Z
dc.date.available2023-06-16T11:10:01Z
dc.date.issued2023
dc.descriptionFunding Information: The study was funded by Latvian Science Council Project No. FLPP lzp-2021/1-0327. Publisher Copyright: Copyright © 2023 Rozevska, Rots, Gailite, Linde, Mironovs, Timcenko, Linovs, Locmele, Micule, Lace and Kenina.
dc.description.abstractHINT1 is an ubiquitous homodimeric purine phosphoramidase belonging to the histidine-triad superfamily. In neurons, HINT1 stabilizes the interaction of different receptors and regulates the effects of their signaling disturbances. Changes in HINT1 gene are associated with autosomal recessive axonal neuropathy with neuromyotonia. Aim of the study was detailed description of patients' phenotype with HINT1 homozygous NM_005340.7: c.110G>C (p.Arg37Pro) variant. Seven homozygous and three compound heterozygous patients were recruited and evaluated using standardized tests for CMT patients, in four patients' nerve ultrasonography was performed. The median age of symptom onset was 10 years (range 1–20), with initial complaints being distal lower limb weakness with gait impairment, combined with muscle stiffness, more pronounced in the hands than in the legs and worsened by cold. Arm muscles became involved later, presenting with distal weakness and hypotrophy. Neuromyotonia was present in all reported patients and is thus a diagnostic hallmark. Electrophysiological studies demonstrated axonal polyneuropathy. Impaired mental performance was observed in six out of ten cases. In all patients with HINT1 neuropathy, ultrasound examination showed significantly reduced muscle volume as well as spontaneous fasciculations and fibrillations. The nerve cross-sectional areas of the median and ulnar nerves were closer to the lower limits of the normal values. None of the investigated nerves had structural changes. Our findings broaden the phenotype of HINT1-neuropathy and have implications for diagnostics and ultrasonographic evaluation of HINT1-neuropathy patients.en
dc.description.statusPeer reviewed
dc.format.extent850641
dc.identifier.citationRozevska, M, Rots, D, Gailite, L, Linde, R, Mironovs, S, Timcenko, M, Linovs, V, Locmele, D, Micule, I, Lace, B & Kenina, V 2023, 'The most common European HINT1 neuropathy variant phenotype and its case studies', Frontiers in Neurology, vol. 14, 1084335, pp. 1084335. https://doi.org/10.3389/fneur.2023.1084335
dc.identifier.doi10.3389/fneur.2023.1084335
dc.identifier.issn1664-2295
dc.identifier.otherMendeley: 8d789ff0-2963-3237-ab52-5788941b1bfd
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/12553
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85149981665&partnerID=8YFLogxK
dc.identifier.urlhttps://www.mendeley.com/catalogue/8d789ff0-2963-3237-ab52-5788941b1bfd/
dc.language.isoeng
dc.relation.ispartofFrontiers in Neurology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectaxonal polyneuropathy
dc.subjectHINT1
dc.subjectimpaired mental performance
dc.subjectnerve USG
dc.subjectpopulation frequency
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectNeurology
dc.subjectClinical Neurology
dc.titleThe most common European HINT1 neuropathy variant phenotype and its case studiesen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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