Clinical and genetic study of SPG4 gene in a family with hereditary spastic paraplegia
10.3760/cma.j.issn.1671-8925.2009.11.019
- VernacularTitle:遗传性痉挛性截瘫一家系(SPG4)的临床与遗传学特点
- Author:
Feng-Yuan CHE
1
;
Zhi-Qing SUN
;
Dong-Mei ZHANG
;
Ju-Xiang LIU
Author Information
1. 山东省临沂市人民医院
- Keywords:
Hereditary spastic paraplegia;
SPG4;
Genes;
Mutation
- From:
Chinese Journal of Neuromedicine
2009;8(11):1156-1158
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the clinical characteristics and genetic features of SPG4 gene in a family with hereditary spastic paraplegia (HSP). Methods The four patients from one LinYi family were clinically diagnosed as having HSP according to Harding's criteria and their peripheral blood samples were collected. We typed the short tandem repeat (STR) loci closely connected with the known HSP cause gane locus at physical distance and genetic linkage analysis was performed on them. Their haplotypes were structured and then screening of gene mutations was performed. Results Non-elimination of linkage was found between D2S2351 and D2S2255 and cause gene, and the LOD scores in other locus were negative value and eliminated the linkage, which implied that the location was in the ADHSP locus of chromosome 2p22 (SPG4) and the candidate gene was spastin gene. Screening of gene mutations found that the mutation loci lied in heterozygous A and G at nucleotide 1168 in spostin gene. The symptoms of the patients manifested as stiffness, instability or weakness of the legs. Conclusions The patients in this family have typical clinical symptoms of HSP, mainly resulting from the novel mutation (spastin: c1168 A>G).
