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Article

SPG10 is a rare cause of spastic paraplegia in European families.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2008

Schüle R, Kremer B P H, Kassubek J, Auer-Grumbach M, Kostic V, Klopstock T, Klimpe S, Otto S, Boesch S, van de Warrenburg B P, Schöls L

Abstract excerpt

BACKGROUND: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. OBJECTIVE: To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype. PATIENTS AND METHODS: 80 index...

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PMID: 18245137
DOI: 10.1136/jnnp.2007.137596

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