Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of <i>GBE1</i> p.R156C and deletion exon 3-7.

ABSTRACT:

Introduction

Adult Polyglucosan Body Disease (APBD) is a rare, autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous systems. It is primarily caused by mutations in the Glycogen Branching Enzyme 1 (GBE1) gene. APBD is typically associated with Ashkenazi Jewish populations, though it can occur in other ethnic groups. This study aims to expand the phenotypic and genetic spectrum of APBD, particularly in non-Ashkenazi Jewish patients, and to identify atypical genetic alterations linked to the disease.

Methods

A 57-year-old Chinese male (Ⅱ3) presented with a 4-year history of progressive bladder dysfunction, upper and lower motor neuron impairment, sensory loss, and lower limb weakness, leading to difficulty with gait. Genetic

SUBMITTER: Zhu J 

PROVIDER: S-EPMC11961938 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature