POLYGLUCOSAN BODY DISEASE SIMULATING AMYOTROPHIC-LATERAL-SCLEROSIS

We describe two patients with polyglucosan body disease (PBD) with the clinical features of atypical amyotrophic lateral sclerosis (ALS). Pa tient 1 was demented, and patient 2, of Ashkenazi background, was inco ntinent of urine. Autopsy of patient 1 revealed diffuse CNS accumulati ons of polyglucosan bodies (PB) localized primarily in neuronal and as trocytic processes and rarely in neuronal perikarya. PB were present i n peripheral nerve and myocardium. Brancher enzyme analysis of nerve a nd muscle was normal. Patient 2's sural nerve biopsy showed PB. Branch er activity was markedly reduced in nerve but not in leukocytes. Previ ous reports have shown reduced leukocyte brancher activity in Ashkenaz i patients with PBD. Clinically, pathologically, and biochemically, PB D is heterogeneous and may include patients presenting with ALS. Cases in which typical pathologic features of PBD are combined with finding s 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 heterogen eity.