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  • Title: Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.
    Author: Uhrova Meszarosova A, Safka Brozkova D, Vyhnalek M, Mazanec R, Lastuvkova J, Trkova M, Bittoova M, Soldatova I, Seeman P.
    Journal: J Clin Neurosci; 2019 Jan; 59():337-339. PubMed ID: 30446360.
    Abstract:
    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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