Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Journal of clinical neuroscience, 2019-01, Vol.59, p.337-339

Ort / Verlag

Scotland: Elsevier Ltd

Erscheinungsjahr

2019

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• •Novel variant c.130C > T (p.Pro44Ser) in homozygous status in exon 1 of the FA2H gene is described.•The first Czech patient with SPG type 35 was diagnosed.•Clinical features including dysarthria, cognitive decline, MRI shows changes in white matter.•The revealed rare variant has probably higher frequency in Czech minority in Romania.•Our results show the genetically isolated character of this minority. 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).