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Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient
A. Uhrova Meszarosova, D. Safka Brozkova, M. Vyhnalek, R. Mazanec, J. Lastuvkova, M. Trkova, M. Bittoova, I. Soldatova, P. Seeman,
Journal of clinical neuroscience.
2019 ;
59 (-) :
337-339.
[pub] 20181113
Jazyk angličtina
Typ dokumentu kazuistiky, časopisecké články
Perzistentní odkaz
https://www.medvik.cz/link/bmc19012142
- MeSH
- dospělí MeSH
- geny recesivní MeSH
- homozygot MeSH
- lidé MeSH
- mutace * MeSH
- oxygenasy se smíšenou funkcí genetika MeSH
- rodokmen MeSH
- spastická paraplegie dědičná genetika patologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
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).
Centre for Medical Genetics and Reproductive Medicine GENNET Prague Czech Republic
Department of Medical Genetics Masaryk Hospital Ústí nad Labem Czech Republic
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- $a Uhrova Meszarosova, Anna $u DNA Laboratory, Department of Paediatric Neurology, Charles University Second School of Medicine and University Hospital Motol, Prague, Czech Republic. Electronic address: anna.meszarosova@lfmotol.cuni.cz.
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- $a 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).
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