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Washington University Experience | NEURODEGENERATION | Polyglucosan Body Disease (PGBD) | 1A4 (AANP DSS 2000-9) 100X 5 copy
Large and small axons with intra-axonal PB (arrows) (one micron thick toluidine blue stained plastic embedded nerves) ---- Diagnosis: Adult polyglucosan body disease involving peripheral nerve, in association with the Tyr239Ser mutation in the glycogen-branching enzyme gene ---- Comment: The patient was of Ashkenazi Jewish descent, and this mutation has been described in this ethnic group. The patient was homozygous for the mutation. Most of the reported cases have dementia, which was not clinically apparent in this patient.
