An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia. Issue 12 (December 1991)

• Record Type: Journal Article
• Authors: Barnes, D; Misra, V P; Young, E P; Thomas, P K; Harding, A E
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 54:Issue 12(1991)
• Page Start: 1112
• Page End: 1113
• Publication Date: 1991-12
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.54.12.1112
• Languages: English
• ISSNs: 0022-3050

Abstract

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.