一个复杂型家族性痉挛性截瘫家系定位于2号染色体短臂的SPG4位点。
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
作者信息
Heinzlef O, Paternotte C, Mahieux F, Prud'homme J F, Dien J, Madigand M, Pouget J, Weissenbach J, Roullet E, Hazan J
机构信息
Service de Neurologie, Hôpital Tenon, Paris, France.
出版信息
J Med Genet. 1998 Feb;35(2):89-93. doi: 10.1136/jmg.35.2.89.
Abstract
Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by progressive spasticity of the lower limbs. AD-FSP has been divided into pure and complicated forms. Pure AD-FSP is genetically heterogeneous; three loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4), and 15q (SPG6), whereas no loci responsible for complicated forms have been identified to date. Here we report linkage to the SPG4 locus in a three generation family with AD-FSP complicated by dementia and epilepsy. Assuming that both forms of AD-FSP are caused by mutations involving the same FSP gene, analysis of recombination events in this family positions the SPG4 gene within a 0 cM interval flanked by loci D2S2255 and D2S2347.
摘要
常染色体显性遗传性家族性痉挛性截瘫（AD - FSP）是中枢运动系统的一种退行性疾病，其特征为下肢进行性痉挛。AD - FSP已被分为单纯型和复杂型。单纯型AD - FSP在遗传上具有异质性；三个基因座已被定位到染色体14q（SPG3）、2p（SPG4）和15q（SPG6），而迄今为止尚未确定导致复杂型的基因座。在此我们报告一个三代家族的AD - FSP与痴呆和癫痫并发，与SPG4基因座连锁。假设两种形式的AD - FSP均由涉及同一FSP基因的突变引起，对该家族重组事件的分析将SPG4基因定位在由基因座D2S2255和D2S2347侧翼的0 cM区间内。
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