Ontology highlight
ABSTRACT:
SUBMITTER: Fontaine B
PROVIDER: S-EPMC1288122 | biostudies-literature | 2000 Feb
REPOSITORIES: biostudies-literature
Fontaine B B Davoine C S CS Dürr A A Paternotte C C Feki I I Weissenbach J J Hazan J J Brice A A
American journal of human genetics 20000201 2
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 ...[more]