Article
A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia.
Neurology - 22 Jul 2003
Wilkinson P A, Crosby A H, Turner C, Patel H, Wood N W, Schapira A H, Warner T T
Abstract excerpt
The authors performed a clinical and genetic study of a large consanguineous English family with uncomplicated autosomal recessive hereditary spastic paraplegia (ARHSP). Linkage to the previously described SPG5A locus was established with maximum multipoint lod score of 4.84. The locus was refined to a 23.6 cM interval between markers D8S1833 and D8S285. No evidence of oxidative phosphorylation defects was found...
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