A Novel <i>MAG</i> Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.

ABSTRACT: Background and objectives: Hereditary spastic paraplegia (HSP) is characterized by unsteady gait, motor incoordination, speech impairment, abnormal eye movement, progressive spasticity and lower limb weakness. Spastic paraplegia 75 (SPG75) results from a mutation in the gene that encodes myelin associated glycoprotein (MAG). Only a limited number of MAG variants associated with SPG75 in families of European, Middle Eastern, North African, Turkish and Palestinian ancestry have been documented so far. This study aims to provide further insight into the clinical and molecular manifestations of HSP. Methods: Using whole-exome sequencing, we investigated a consanguineous Pakistani family where three individuals presented with clinical signs of HSP. Sanger sequencing was use

SUBMITTER: Akram R 

PROVIDER: S-EPMC11431006 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature