The classical form of APBD is most commonly associated with the homozygous GBE1 variant p.Tyr329Ser (c.986A>C), and is characterized by a triad of clinical features after the age of 40: neurogenic bladder dysfunction, spastic paraplegia, and axonal neuropathy, which manifest in approximately 90% of patients. The gene discussed is GBE1; the disease is adult polyglucosan body disease.