A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
BACKGROUND
Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders with the shared characteristics of slowly progressive spasticity and weakness of the lower limbs. Thirteen loci for autosomal dominant HSP have been mapped.


METHODS
A Chinese family with HSP was found in the Shandong province and Inner Mongolia Autonomous Region of China and genomic DNA of all 19 family members was isolated. After exclusion of known autosomal dominant loci, a genome wide scan and linkage analysis were performed.


RESULTS
The known autosomal dominant loci of SPG3A, SPG4, SPG6, SPG8, SPG9, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31 and SPG33 were excluded by linkage analysis. The results of a genome wide scan demonstrated candidate linkage to a locus on chromosome 11p14.1-p11.2, over an 18.88 cM interval between markers D11S1324 and D11S1933. A maximal, two point LOD score of 2.36 for marker D11S935 at a recombination fraction (theta) of 0 and a multipoint LOD score of 2.36 for markers D11S1776, D11S1751, D11S1392, D11S4203, D11S935, D11S4083, and D11S4148 at theta=0, suggest linkage to this locus.


CONCLUSIONS
The HSP neuropathy in this family may represent a novel genetic entity, which will facilitate discovery of this causative gene.
Zhao
Guo-hua
GH
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Hu
Zheng-mao
ZM
Shen
Lu
L
Jiang
Hong
H
Ren
Zhi-jun
ZJ
Liu
Xiao-min
XM
Xia
Kun
K
Guo
Peng
P
Pan
Qian
Q
Tang
Bei-sha
BS
D000328:Adult; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006801:Humans; D008126:Lod Score; D008297:Male; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*