A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the < b > < i > SPAST < /i > < /b > Gene

In conclusion, the missense variant inSPAST may cause a complex SPG4 phenotype accompanied by epilepsy and cognitive impairment, suggesting that the clinical manifestations of this condition do not confine to the motor system.Case Rep Neurol 2021;13:763 –771
Source: Case Reports in Neurology - Category: Neurology Source Type: research