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Adult polyglucosan body disease (APBD) is an autosomal recessive leukoencephalopathy caused by a deficiency of glycogen branching enzyme (GBE), leading to deposition of PBs in the central and peripheral nervous systems. The main clinical features are adult-onset progressive neurogenic bladder dysfunction, gait disturbance, and peripheral neuropathy.1 The majority of patients with APBD are of Ashkenazi Jewish ancestry and have a common p.Tyr329Ser mutation in the GBE1 gene encoding GBE.1,2 We identified a novel GBE1 mutation in a Japanese family with APBD using exome sequencing.

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease