Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10294636" target="_blank" >RIV/00216208:11130/15:10294636 - isvavai.cz</a>
Alternative codes found
RIV/00843989:_____/15:E0104619 RIV/00064203:_____/15:10294636
Result on the web
<a href="http://dx.doi.org/10.1007/s10048-014-0427-8" target="_blank" >http://dx.doi.org/10.1007/s10048-014-0427-8</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s10048-014-0427-8" target="_blank" >10.1007/s10048-014-0427-8</a>

Result language
angličtina
Original language name
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom
Original language description
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
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FH - Neurology, neuro-surgery, nuero-sciences
OECD FORD branch
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Project
<a href="/en/project/NT14348" target="_blank" >NT14348: New generation sequencing and genotyping approaches of DNA analysis for effective and comprehensive molecular diagnostics of less common and novel types of hereditary neuropaties Charcot-Marie-Tooth.</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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