J Neurol Neurosurg Psychiatry. 1991 Dec;54(12):1112-3.

An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.

Barnes D, Misra VP, Young EP, Thomas PK, Harding AE.

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National Hospital for Neurology and Neurosurgery, London, UK.

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.

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Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome. [J Neurol Neurosurg Psychiatry....]
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An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.

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