SPG11 - the most common type of recessive spastic paraplegia in Norway?

被引：14

作者：

Erichsen, A. K. ^{[1
]}

Stevanin, G. ^{[2
,3
]}

Denora, P. ^{[2
,3
]}

Brice, A. ^{[2
,3
]}

Tallaksen, C. M. E. ^{[1
,4
]}

机构：

[1] Ullevaal Univ Hosp, Dept Neurol, N-0407 Oslo, Norway

[2] INSERM, UMR S679, Paris, France

[3] UPMC, UMR S679, Grp Hosp Pitie Salpetriere, Paris, France

[4] Univ Oslo, Fac Med, N-0316 Oslo, Norway

来源：

ACTA NEUROLOGICA SCANDINAVICA | 2008年 / 117卷

关键词：

hereditary spastic paraplegia; neurodegenerative disorder; SPG11; spatacsin; corpus callosum hypoplasia;

D O I：

10.1111/j.1600-0404.2008.01031.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background - Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized by lower limb spasticity with additional neurological symptoms and signs in complicated forms. Among the many autosomal recessive forms, SPG11 appears to be one of the most frequent. Objective - Our objective was to select potential SPG11 patients based on phenotypes in our material, identify eventual disease-causing variants with the collaboration of laboratories abroad, estimate the frequency and spectrum of SPG11-mutations and describe their associated phenotypes. Material and Methods - Two isolated cases and two affected members of one family with cognitive impairment and confirmed thin corpus callosum on magnetic resonance imaging were selected from our database for inclusion into a multicenter study. Results - Mutations were found in the two isolated cases but not in the proband of the family. Conclusion - We present the first SPG11-HSP in the Norwegian population. SPG11 should be suspected in patients with isolated or recessive HSP, thin corpus callosum and mental retardation.

引用

页码：46 / 50

页数：5

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