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Article

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.

Journal of neurology - 1 May 2013

Roxburgh Richard H, Marquis-Nicholson Renate, Ashton Fern, George Alice M, Lea Rod A, Eccles David, Mossman Stuart, Bird Thomas, van Gassen Koen L, Kamsteeg Erik-Jan, Love Donald R

Abstract excerpt

The c.1529C >T change in the SPG7 gene, encoding the mutant p.Ala510Val paraplegin protein, was first described as a polymorphism in 1998. This was based on its frequency of 3 % and 4 % in two separate surveys of controls in the United Kingdom (UK) population. Subsequently, it has been found to co-segregate with disease in a number of different populations. Yeast expression studies support its having a...

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Identifiers

PMID: 23269439
DOI: 10.1007/s00415-012-6792-z

Genes

SPG7

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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