MOTOR NEURON DISORDERS AND NEUROPATHIES: EP.241 A compound heterozygous mutation in B4GALNT1 causes axonal Charcot-Marie-Tooth disease

Abstract

Mutations in B4GALNT1 are involved in hereditary spastic paraplegia subtype 26 (SPG26) in an autosomal recessive manner. The clinical symptoms of SPG26 caused by B4GALNT1 mutations include lower extremity spasticity, muscle weakness, and gait abnormality. Here, we report the clinical features of an autosomal recessive CMT patient with a novel compound heterozygous B4GALNT1 mutation. To identify the causative factors and characterize the clinical features of a Korean family with motor and sensory neuropathies, a whole exome sequencing (WES) was performed.