Friedreich's ataxia presenting as adult-onset spastic paraparesis

被引：20

作者：

Gates, PC

Paris, D

Forrest, SM

Williamson, R

Gardner, RJM

机构：

[1] Royal Childrens Hosp, Murdoch Inst, Parkville, Vic 3052, Australia

[2] Geelong Hosp, Geelong, Vic 3220, Australia

来源：

NEUROGENETICS | 1998年 / 1卷 / 04期

关键词：

Friedreich's ataxia; frataxin; spastic paraparesis;

D O I：

10.1007/s100480050045

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have studied a man with an atypical form of Friedreich's ataxia (FRDA), who presented at age 26 years with a 2-year history of unsteadiness and clumsiness. The predominant feature of his initial neurological examination was a spastic paraparesis, along with a mild distal weakness and hyperreflexia of the upper limbs. He also displayed limb ataxia. Frataxin GAA repeat sizes were 1040/690. This unusual FRDA presentation is not dissimilar to that of Acadian spastic ataxia.

引用

页码：297 / 299

页数：3

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