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Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

31 Jul 2005

Abstract excerpt

BACKGROUND: SPG4 encodes spastin, a member of the AAA protein family, and is the major gene responsible for autosomal dominant spastic paraplegia. It accounts for 10-40% of families with pure (or eventually complicated) hereditary spastic paraparesis (HSP). OBJECTIVE: To assess the frequency of SPG4 mutation in patients with spastic paraplegia but without family histories. METHODS: 146 mostly European probands...

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PMID: 16055926
DOI: 10.1136/jmg.2005.035311

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