title: Polyglucosan body disease simulating amyotrophic lateral sclerosis.
abstract: We describe two patients with polyglucosan body disease (PBD) with the clinical features of atypical amyotrophic lateral sclerosis (ALS). Patient 1 was demented, and patient 2, of Ashkenazi background, was incontinent of urine. Autopsy of patient 1 revealed diffuse CNS accumulations of polyglucosan bodies (PB) localized primarily in neuronal and astrocytic processes and rarely in neuronal perikarya. PB were present in peripheral nerve and myocardium. Brancher enzyme analysis of nerve and muscle was normal. Patient 2's sural nerve biopsy showed PB. Brancher activity was markedly reduced in nerve but not in leukocytes. Previous reports have shown reduced leukocyte brancher activity in Ashkenazi patients with PBD. Clinically, pathologically, and biochemically, PBD is heterogeneous and may include patients presenting with ALS. Cases in which typical pathologic features of PBD are combined with findings of rare PB in neural perikarya may represent a pathologic variant of PBD. Brancher enzyme activity may be normal or only mildly reduced in leukocytes in Ashkenazi patients with PBD, implying genetic heterogeneity.
authors: Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY.
authors: T D
authors: TD
authors: McDonald
authors: P L
authors: PL
authors: Faust
authors: C
authors: C
authors: Bruno
authors: S
authors: S
authors: DiMauro
authors: J E
authors: JE
authors: Goldman
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000378:metabolism; D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000473:pathology*; D001927:Brain Diseases / Q000201:enzymology / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology; D009206:Myocardium / Q000473:pathology; D010525:Peripheral Nerves / Q000201:enzymology / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology*
chemical_list: D015061:1,4-alpha-Glucan Branching Enzyme