Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient

To chci

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). … celý popis

Podrobná bibliografie

Hlavní autor

Anna Uhrova Meszarosova

Další autoři

Dana Safka Brozkova, Martin Vyhnalek, Radim Mazanec, Jana Lastuvkova, Marie Trkova, Martina Bittoova, Inna Soldatova, Pavel Seeman

Typ dokumentu

Články

Publikováno v

Journal of clinical neuroscience official journal of the Neurosurgical Society of Australasia. -- ISSN 1532-2653. -- Roč. 59, č. - (2019), s. 337-339

Témata

dospělí

geny recesivní

homozygot

lidé

mužské pohlaví

oxygenasy se smíšenou funkcí > genetika

mutace

rodokmen

spastická paraplegie dědičná > genetika > patologie

kazuistiky

časopisecké články