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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,

. 2019 ; 59 (-) : 337-339. [pub] 20181113

Language English

Document type Case Reports, Journal Article

Persistent link   https://www.medvik.cz/link/bmc19012142

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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$a Biallelic pathogenic variants in FA2H gene have been repeatedly described as a cause of hereditary spastic paraplegia (HSP) type35 (SPG35). Targeted massive parallel sequencing (MPS) of the HSP genes panel revealed a novel homozygous variant c.130C > T (p.P44S) in the FA2H gene in the 30-year-old patient presenting with spastic paraplegia. The patient originated form the Czech minority in Romania. The patient manifests typical clinical signs for SPG35 (youth onset gait impairment, progressive spastic paraparesis on lower limbs, dysarthria, white matter changes in MRI).
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$a Safka Brozkova, Dana $u DNA Laboratory, Department of Paediatric Neurology, Charles University Second School of Medicine and University Hospital Motol, Prague, Czech Republic.
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$a Vyhnalek, Martin $u Department of Neurology, Charles University Second School of Medicine and University Hospital Motol, Prague, Czech Republic.
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$a Mazanec, Radim $u Department of Neurology, Charles University Second School of Medicine and University Hospital Motol, Prague, Czech Republic.
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$a Lastuvkova, Jana $u Department of Medical Genetics, Masaryk Hospital, Ústí nad Labem, Czech Republic.
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$a Trkova, Marie $u Centre for Medical Genetics and Reproductive Medicine GENNET, Prague, Czech Republic.
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$a Bittoova, Martina $u Centre for Medical Genetics and Reproductive Medicine GENNET, Prague, Czech Republic.
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$a Soldatova, Inna $u Centre for Medical Genetics and Reproductive Medicine GENNET, Prague, Czech Republic.
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$a Seeman, Pavel $u DNA Laboratory, Department of Paediatric Neurology, Charles University Second School of Medicine and University Hospital Motol, Prague, Czech Republic; Centre for Medical Genetics and Reproductive Medicine GENNET, Prague, Czech Republic.
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