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Article

Novel and recurrent spastin mutations in a large series of SPG4 Italian families.

Neuroscience letters - 18 Oct 2012

Nanetti L, Baratta S, Panzeri M, Tomasello C, Lovati C, Azzollini J, Gellera C, Di Bella D, Taroni F, Mariotti C

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias (HSP) are heterogeneous neurodegenerative disorders, genetically classified according to the identified disease gene or locus. Clinically, HSP are distinguished in pure and complicated forms. Mutations in the spastin gene (SPAST) are responsible for SPG4 and account approximately for 50% of the dominantly inherited paraplegias with a pure HSP phenotype. METHODS:...

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Source

Identifiers

PMID: 22960362
DOI: 10.1016/j.neulet.2012.08.036

Genes

SPAST

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