ArticleFrontiers in genetics2025
Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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- Colocalization and functional analyses identifyAmerican journal of physiology. Endocrinology and metabolism · 2026Article
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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 ( 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 testing was performed to identify potential pathogenic variants in the Results: Genetic testing revealed that both affected individuals (Ⅱ3 and Ⅱ5) carried compound heterozygous variants in the Discussion: This case expands the phenotypic and genetic spectrum of APBD, particularly by documenting its occurrence in non-Ashkenazi Jewish patients. Additionally, the identification of atypical genetic alterations, such as the large deletion in
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