Hereditary spastic paraplegia type 31: A novel splice site donor mutation and intra-familial phenotypic variability

Abstract

Background: Mutations in REEP1 have been identified in two types of neurological disorders, autosomal dominant form of Hereditary Spastic Paraplegia type 31 (SPG31) and autosomal dominant distal hereditary motor neuronopathy type VB (HMN5B). Previous studies demonstrated various molecular pathogenesis in SPG31, including loss-of-function, gain-of-function and haploinsufficiency.