{Reference Type}: Case Reports
{Title}: A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia.
{Author}: Sbragia E;Assini A;Calzavara S;Carrera P;Solaro CM;Di Maria E;
{Journal}: eNeurologicalSci
{Volume}: 35
{Issue}: 0
{Year}: 2024 Jun
暂无{DOI}: 10.1016/j.ensci.2024.100506
{Abstract}: Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of lower limbs. We report a novel splicing variant (c.1617-2A>C) of the SPAST gene in a heterozygous carrier from an Italian family with autosomal dominant HSP. The case study describes a pure form of spastic paraparesis with the cardinal clinical features of SPG4. The novel variant affects a canonical splice site and is likely to disrupt RNA splicing. We conclude that the c.1617-2A>C substitution is a null variant, which could be classified as pathogenic; its penetrance should be further investigated.