Expanding the phenotype of spastic paraplegia 26: Report of 4 cases with hearing dysfunction

Abstract

Background: Spastic Paraplegia 26 (SPG26) is a complex type of spastic paraplegia caused by\xa0B4GALNT1\xa0gene pathogenic variants, and is characterized by childhood/adolescence onset of progressive spastic paraplegia associated with mild to moderate cognitive impairment and developmental delay, dysarthria, cerebellar ataxia, and peripheral neuropathy.