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A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21

被引：19
作者：
Stevanin, G.
Paternotte, C.
Coutinho, P.
Klebe, S.
Elleuch, N.
Loureiro, J. L.
Denis, E.
Cruz, V. T.
Durr, A.
Prud'homme, J.-F.
Weissenbach, J.
Brice, A.
Hazan, J.
机构：
[1] Kings Coll London, MRC, Ctr Dev Neurobiol, London SE1 1UL, England
[2] Hop La Pitie Salpetriere, APHP, INSERM, U679, Paris, France
[3] Hop La Pitie Salpetriere, APHP, Federat Inst Neurosci Res, IFR70, Paris, France
[4] Hop La Pitie Salpetriere, Dept Genet Cytogenet & Embryol, Paris, France
[5] CNS, Genoscope, Evry, France
[6] Hosp San Sebastiao, Neurol Serv, Santa Maria Feira, Portugal
[7] Univ Porto, Inst Biol Mol & Celular, UnIGENe, P-4100 Oporto, Portugal
[8] Genethon, Evry, France
[9] Hop La Pitie Salpetriere, Federat Neurol, Paris, France
[10] Hop La Pitie Salpetriere, Marie Curie Med Sch, Paris, France
来源：
NEUROLOGY | 2007年 / 68卷 / 21期
关键词：
D O I：
10.1212/01.wnl.0000262043.53386.22
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
引用
收藏
页码：1837 / 1840
页数：4
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