CHERRY-RED SPOT MYOCLONUS SYNDROME (TYPE-I SIALIDOSIS)

被引：22

作者：

FEDERICO, A ^{[1
]}

BATTISTINI, S ^{[1
]}

CIACCI, G ^{[1
]}

DESTEFANO, N ^{[1
]}

GATTI, R ^{[1
]}

DURAND, P ^{[1
]}

GUAZZI, GC ^{[1
]}

机构：

[1] IST GIANNINA GASLINI,I-16148 GENOA,ITALY

来源：

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

关键词：

SIALIDOSIS; ALPHA-NEURAMINIDASE DEFECT; MYOCLONUS SYNDROME; CHERRY-RED SPOT;

D O I：

10.1159/000112180

中图分类号：

Q [生物科学];

学科分类号：

07 [理学]; 0710 [生物学]; 09 [农学];

摘要：

The authors report the sequence of the clinical symptoms in type I sialidosis or cherry-red spot myoclonus syndrome, derived from the cases personally observed and from the literature. They also report neuropathological and neurochemical data. A serial EEG study in a case shows the tendency to a progressive deregulation of cerebral electric activity. Therapeutic attempts to reduce myoclonus, which is one of the more disabling symptoms in this syndrome, are described.

引用

页码：320 / 326

页数：7

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