Stevanin G, Paternotte C, Coutinho P, Klebe S, Elleuch N, Loureiro J L, Denis E, Cruz V T, Dürr A, Prud'homme J-F, Weissenbach J, Brice A, Hazan J
INSERM U679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France.
Neurology. 2007 May 22;68(21):1837-40. doi: 10.1212/01.wnl.0000262043.53386.22.
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by progressive spasticity of the lower limbs. Here, we performed a genome-wide linkage analysis on a consanguineous family presenting an autosomal recessive form of HSP associated with mild mental retardation, brainstem dysraphia, and clinically asymptomatic cerebellar atrophy. We have mapped the disease locus SPG32 to chromosome 14q12-q21 within a 30-cM interval, which excludes the atlastin gene.
遗传性痉挛性截瘫(HSPs)是一组以双下肢进行性痉挛为特征的神经退行性疾病。在此,我们对一个近亲家庭进行了全基因组连锁分析,该家庭呈现出一种常染色体隐性形式的HSP,伴有轻度智力迟钝、脑干闭合不全和临床无症状的小脑萎缩。我们已将疾病基因座SPG32定位到14号染色体q12 - q21区域内30厘摩的区间,该区间不包括atlastin基因。