Concepedia

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

Philip A. Wilkinson, Andrew H. Crosby, Caria E. Turner, Harshad B. Patel, Nicholas Wood, Anthony H.V. Schapira, Thomas T. Warner

Neurology · 2003 · 36 citations · 10 references

DOI

Concepts

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.

References

10

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Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell · 1998 · 829 citations · Full text

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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

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A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)

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Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60

Jens Jacob Hansen, Alexandra Dürr, Isabelle Cournu‐Rebeix et al. · The American Journal of Human Genetics · 2002 · 371 citations · Full text

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Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

Xinping Zhao, David M. Alvarado, Shirley Rainier et al. · Nature Genetics · 2001 · 359 citations

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