Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F19%3A10394143" target="_blank" >RIV/00064203:_____/19:10394143 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/19:10394143
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=-sH3Hl59Lm" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=-sH3Hl59Lm</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jocn.2018.10.094" target="_blank" >10.1016/j.jocn.2018.10.094</a>
Alternative languages
Result language
angličtina
Original language name
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient
Original language description
Biallelic pathogenic variants in FA2H gene have been repeatedly described as a cause of hereditary spastic paraplegia (HSP) type35 (SPG35). Targeted massive parallel sequencing (MPS) of the HSP genes panel revealed a novel homozygous variant c.130C > T (p.P44S) in the FA2H gene in the 30-year-old patient presenting with spastic paraplegia. The patient originated form the Czech minority in Romania. The patient manifests typical clinical signs for SPG35 (youth onset gait impairment, progressive spastic paraparesis on lower limbs, dysarthria, white matter changes in MRI). (C) 2018 Elsevier Ltd. All rights reserved.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
<a href="/en/project/NV16-30206A" target="_blank" >NV16-30206A: Whole genome sequencing and RNA sequencing - a tool for elucidation of the causes of rare types of hereditary neuropathies.</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Clinical Neuroscience
ISSN
0967-5868
e-ISSN
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Volume of the periodical
59
Issue of the periodical within the volume
Januar
Country of publishing house
GB - UNITED KINGDOM
Number of pages
3
Pages from-to
337-339
UT code for WoS article
000457660200062
EID of the result in the Scopus database
2-s2.0-85056300756