UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia

Wilkinson, PA; Crosby, AH; Turner, C; Patel, H; Wood, NW; Schapira, AH; Warner, TT; (2003) A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. NEUROLOGY , 61 (2) 235 - 238.

Full text not available from this repository.

Abstract

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 in muscle biopsies from two affected individuals.

Type: Article
Title: A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia
Keywords: MUTATIONS
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/140169
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item