Primary lateral sclerosis as a phenotypic manifestation of familial ALS

被引：31

作者：

Brugman, F

Wokke, JHJ

de Jong, JMBV

Franssen, H

Faber, CG

Van den Berg, LH

机构：

[1] Univ Utrecht, Med Ctr, Rudolf Magnus Inst Neurosci, Dept Neurol, NL-3508 GA Utrecht, Netherlands

[2] Univ Utrecht, Med Ctr, Rudolf Magnus Inst Neurosci, Dept Clin Neurophysiol, NL-3508 GA Utrecht, Netherlands

[3] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1105 AZ Amsterdam, Netherlands

[4] Univ Hosp Maastricht, Maastricht, Netherlands

来源：

NEUROLOGY | 2005年 / 64卷 / 10期

关键词：

D O I：

10.1212/01.WNL.0000162033.47893.F7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Primary lateral sclerosis (PLS) is a diagnosis of exclusion in patients with progressive spinobulbar spasticity and could be part of the clinical spectrum of ALS. Unlike ALS, which is familial in 5 to 10 % of the cases, PLS has been described as a sporadic disorder in adults. The authors report two patients with PLS from unrelated SOD1-negative familial ALS families. These observations provide further evidence that PLS can be linked pathophysiologically to ALS.

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页码：1778 / 1779

页数：2

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