title: An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
abstract: A 42 year old man presented with a slowly progressive gait disturbance, generalised weakness, dysarthria, clumsiness and tremor of his hands, and involuntary jerks. Hexosaminidase A activity in plasma, leucocytes and fibroblasts was considerably reduced, establishing the diagnosis of GM2 gangliosidosis. Clinical examination showed two previously unreported features, a clinically evident sensory neuropathy and internuclear ophthalmoplegia.
authors.affiliation: National Hospital for Neurology and Neurosurgery, London, UK.
authors.forename: D
authors.initials: D
authors.lastname: Barnes
authors.forename: V P
authors.initials: VP
authors.lastname: Misra
authors.forename: E P
authors.initials: EP
authors.lastname: Young
authors.forename: P K
authors.initials: PK
authors.lastname: Thomas
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
mesh_terms: D000328:Adult; D005733:Gangliosidoses / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D054818:Hexosaminidase A; D006801:Humans; D008297:Male; D009431:Neural Conduction / Q000502:physiology; D009468:Neuromuscular Diseases / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology*; D009886:Ophthalmoplegia / Q000201:enzymology / Q000503:physiopathology*; D013497:Sural Nerve / Q000473:pathology; D013577:Syndrome; D001619:beta-N-Acetylhexosaminidases / Q000172:deficiency*
chemical_list: D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases