A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia
2003; Lippincott Williams & Wilkins; Volume: 61; Issue: 2 Linguagem: Inglês
10.1212/01.wnl.0000069920.42968.8d
ISSN1526-632X
AutoresPhilip A. Wilkinson, Andrew H. Crosby, Caria E. Turner, Harshad B. Patel, Nicholas Wood, Anthony H.V. Schapira, Thomas T. Warner,
Tópico(s)Genetic Neurodegenerative Diseases
ResumoThe 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.
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