Hereditary Spastic Paraparesis with SPG6 mutation: First case report from Malaysia

Background: Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative disorder resulting from a length-dependent axonopathy of upper motor neurons. HSP is classified as pure form characterized by progressive lower limb spasticity, or complicated form. Mutations in the non-imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1) gene causes autosomal dominant (AD) HSP type 6 (SPG6), accounting for less than 1% of all AD-HSP cases in Europe; more prevalent (3.6%) in patients of Chinese descent.

Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: Y.H. Lau, E. Chew, S. Tanapalla, S.K.Y. Hung, K.M. Lau Source Type: research