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 gangliosido...

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Detalhes bibliográficos

Publicado no:	J Neurol Neurosurg Psychiatry
Principais autores:	Barnes, D, Misra, V P, Young, E P, Thomas, P K, Harding, A E
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMJ Publishing Group 1991
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1014692/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1838393/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jnnp.54.12.1112
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