A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
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DOI：
10.1086/302776
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发表时间：
2000-02-01
影响因子：
9.8
通讯作者：
Brice, A
中科院分区：
文献类型：
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作者：
Fontaine, B;Davoine, CS;Brice, A
遗传性痉挛性截瘫（HSP）是一组临床和遗传异质性疾病，导致下肢进行性痉挛和无力。我们报告了一个法国血统的大家庭与常染色体显性遗传的纯HSP。我们排除了与已知HSP基因座的遗传连锁，并进行了全基因组搜索。我们发现了该疾病与染色体2 q24-q34上的多态性标记连锁的证据：标记D2 S2318获得了3.03的最大LOD得分。通过与纯常染色体显性热休克蛋白（2 p染色体上的SPG 4）的主要位点连锁的家庭相比，有显着更多的患者没有巴宾斯基征，增加反射在上肢，并有严重的功能障碍。
Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders causing progressive spasticity and weakness of the lower limbs. We report a large family of French descent with autosomal dominant pure HSP. We excluded genetic linkage to the known loci causing HSP and performed a genomewide search. We found evidence for linkage of the disorder to polymorphic markers on chromosome 2q24-q34: a maximum LOD score of 3.03 was obtained for marker D2S2318. By comparison with families having linkage to the major locus of pure autosomal dominant HSP (SPG4 on chromosome 2p), there were significantly more patients without Babinski signs, with increased reflexes in the upper limbs, and with severe functional handicaps.