title: Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients.
abstract: We describe 2 unrelated patients with adult polyglucosan body disease (APBD) diagnosed by sural nerve biopsy. Both patients were offspring of consanguineous marriages. They presented clinically with late onset pyramidal tetraparesis, micturition difficulties, peripheral neuropathy, and mild cognitive impairment. Magnetic resonance imaging of the brain revealed extensive white matter abnormalities in both. In search of a possible metabolic defect, we evaluated glycogen metabolism in these patients and their clinically unaffected children. Branching enzyme activity in the patients' polymorphonuclear leukocytes was about 15% of control values, whereas their children displayed values of 50 to 60%, suggesting a possible autosomal recessive mode of transmission. This is the first report of an inherited metabolic defect in patients with adult polyglucosan body disease. We suggest that branching enzyme dysfunction may be implicated in the pathogenesis of some patients with adult polyglucosan body disease.
authors.affiliation: Department of Neurology, Hadassah University Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Lossos
authors.forename: V
authors.initials: V
authors.lastname: Barash
authors.forename: D
authors.initials: D
authors.lastname: Soffer
authors.forename: Z
authors.initials: Z
authors.lastname: Argov
authors.forename: M
authors.initials: M
authors.lastname: Gomori
authors.forename: Z
authors.initials: Z
authors.lastname: Ben-Nariah
authors.forename: O
authors.initials: O
authors.lastname: Abramsky
authors.forename: I
authors.initials: I
authors.lastname: Steiner
mesh_terms: D015061:1,4-alpha-Glucan Branching Enzyme / Q000172:deficiency*; D001921:Brain / Q000473:pathology; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006003:Glycogen / Q000378:metabolism*; D006011:Glycogen Storage Disease Type IV / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007585:Jews; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics / Q000473:pathology; D009504:Neutrophils / Q000201:enzymology*; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology
chemical_list: D006003:Glycogen; D015061:1,4-alpha-Glucan Branching Enzyme