Fontaine B, Davoine C S, Dürr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A
INSERM CJF9711, Faculté de Médecine Pitié-Salpêtrière, 105 boulevard de l'hôpital, 75013 Paris, France.
Am J Hum Genet. 2000 Feb;66(2):702-7. doi: 10.1086/302776.
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.
遗传性痉挛性截瘫（HSP）是一组临床和遗传异质性疾病，可导致下肢进行性痉挛和无力。我们报告了一个法裔大家族，其患有常染色体显性纯合HSP。我们排除了与已知导致HSP的基因座的遗传连锁，并进行了全基因组搜索。我们发现该疾病与2q24-q34染色体上的多态性标记存在连锁证据：标记D2S2318的最大对数优势分数（LOD）为3.03。与与常染色体显性纯合HSP主要基因座（2p染色体上的SPG4）连锁的家族相比，没有巴宾斯基征、上肢反射增强和严重功能障碍的患者明显更多。
