SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation

被引：33

作者：

Del Bo, Roberto

Di Fonzo, Alessio

Ghezzi, Serena

Locatelli, Federica

Stevanin, Giovanni

Costa, Antonella

Corti, Stefania

Bresolin, Nereo

Comi, Giacomo Pietro

机构：

[1] Univ Milan, Osped Maggiore, Policlin Mangiagalli, IRCCS Fdn,Dino Ferrari Ctr,Dept Neurol Sci, I-20122 Milan, Italy

[2] IRCCS Eugenio Medea, Lecce, Italy

[3] Univ Paris 06, INSERM, Fed Inst Neurosci Res, Pitie Salpetriere Grp, F-75013 Paris, France

[4] IRCCS Fdn, Osped Maggiore, Policlin Mangiagalli & Regina Elena, Neuroradiol Unit, Milan, Italy

[5] Univ Milan, Ctr Excellence Neurodegenerat Dis, Milan, Italy

来源：

NEUROGENETICS | 2007年 / 8卷 / 04期

关键词：

autosomal recessive hereditary spastic paraplegia; thin corpus callosum; spatacsin; SPG11;

D O I：

10.1007/s10048-007-0095-z

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurodegenerative disorders leading to progressive spasticity of the lower limbs. Here, we describe clinical and genetic features in an Italian family affected by autosomal recessive HSP (ARHSP) with mental impairment and thin corpus callosum (TCC). In both affected subjects, genetic analysis revealed the presence of a homozygous small deletion (733_734delAT) leading to a frameshift (M245VfsX) within the coding region of SPG11 gene, encoding spatacsin. This finding is the first independent confirmation that spatacsin loss of function mutations cause ARHPS-TCC.

引用

页码：301 / 305

页数：5

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