An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
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.
Barnes
D
D
National Hospital for Neurology and Neurosurgery, London, UK.
Misra
V P
VP
Young
E P
EP
Thomas
P K
PK
Harding
A E
AE
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*
D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases