AN ADULT ONSET HEXOSAMINIDASE-A DEFICIENCY SYNDROME WITH SENSORY NEUROPATHY AND INTERNUCLEAR OPHTHALMOPLEGIA

被引：13

作者：

BARNES, D

MISRA, VP

YOUNG, EP

THOMAS, PK

HARDING, AE

机构：

[1] INST NEUROL, QUEEN SQ, LONDON WC1N 3BG, ENGLAND

[2] UCL NATL HOSP NEUROL & NEUROSURG, LONDON, ENGLAND

[3] ROYAL FREE HOSP, SCH MED, DEPT NEUROL SCI, LONDON, ENGLAND

[4] HOSP SICK CHILDREN, DEPT CLIN BIOCHEM, LONDON WC1N 3JH, ENGLAND

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 1991年 / 54卷 / 12期

关键词：

D O I：

10.1136/jnnp.54.12.1112

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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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页码：1112 / 1113

页数：2

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