THE CLINICAL ASPECTS OF ADULT HEXOSAMINIDASE DEFICIENCIES

被引：32

作者：

FEDERICO, A

PALMERI, S

MALANDRINI, A

FABRIZI, G

MONDELLI, M

GUAZZI, GC

机构：

[1] Istituto di Scienze Neurologiche, Facoltà di Medicina, Università di Siena

来源：

DEVELOPMENTAL NEUROSCIENCE | 1991年 / 13卷 / 4-5期

关键词：

GM2; GANGLIOSIDOSIS; HEXOSAMINIDASE DEFICIENCY; ATAXIA; MOTOR NEURON DISEASE; PSYCHOSIS;

D O I：

10.1159/000112174

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar ataxia, motor neuron disease, dystonia, psychosis, neurovegetative troubles with different severity. Morphological changes are evident in rectal, muscle or nerve biopsies. Minor clinical changes are described in carriers from a family. A chronic GM2 gangliosidosis has to be suspected in any atypical case with the above-mentioned symptoms with autosomal-recessive inheritance.

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收藏

页码：280 / 287

页数：8

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