Early onset Parkinsonism associated with an intronic SOD1 mutation

被引：4

作者：

Kacem, Imen ^{[1
]}

Funalot, Benoit ^{[1
]}

Torny, Frederic ^{[1
]}

Lautrette, Geraldine ^{[1
]}

Andersen, Peter M. ^{[2
]}

Couratier, Philippe ^{[1
]}

机构：

[1] CHU Limoges, Dept Neurol, ALS Ctr, F-87042 Limoges, France

[2] Umea Univ, Inst Clin Neurosci, Umea, Sweden

来源：

AMYOTROPHIC LATERAL SCLEROSIS | 2012年 / 13卷 / 03期

关键词：

ALS; FALS; Parkinsonism; SOD1; AMYOTROPHIC-LATERAL-SCLEROSIS; GENE-MUTATIONS; PHENOTYPIC VARIABILITY; FAMILIAL PARKINSONISM; ALS; DEMENTIA;

D O I：

10.3109/17482968.2011.623301

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

We report on a patient belonging to a large family with autosomal-dominant amyotrophic lateral sclerosis, who developed asymmetrical akineto-rigid symptoms at 33 years of age. He had no signs of lower motor neuron disease after four years of follow-up. All seven ALS patients from this family harboured a mutation located in the fourth intron of the SOD1 gene. The proband also harboured the same mutation, associated with a 40% decrease in SOD1 erythrocyte activity. This case report suggests that SOD1 mutations might be associated with marked phenotypic variability (ALS or early onset Parkinsonism in this family).

引用

页码：315 / 317

页数：3

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