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Polyglucosan body disease simulating amyotrophic lateral sclerosis

Departments of Neurology (Drs. McDonald, Bruno, and DiMauro) and Pathology (Drs. Faust and Goldman), Columbia-Presbyterian Medical Center, New York, NY.

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.

Address correspondence and reprint requests to Dr. James E. Goldman, Black Building, Room 1422, College of Physicians and Surgeons of Columbia University, 650 West 168th Street, New York, NY 10032.

Supported by center grant NS-11766 from the National Institute of Neurological and Communicative Disorders and Stroke, Bethesda, MD; a grant from the Muscular Dystrophy Association, New York, NY; and General Clinical Research Center Grant RR00645. Dr. Bruno is supported by a fellowship from U.I.L.D.M.-Genova, and Telethon 90 (project 32).

Received April 14, 1992. Accepted for publication in final form August 19, 1992.

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