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Article

Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.

Neurology - 4 Aug 2009

Murphy S, Gorman G, Beetz C, Byrne P, Dytko M, McMonagle P, Kinsella K, Farrell M, Hutchinson M

Abstract excerpt

BACKGROUND: Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis (HSP) linked to the SPG4 locus. There has only been one postmortem examination described; not all accept that progressive cognitive decline is a feature of this disorder. OBJECTIVE: A family with SPG4-HSP known to have a deletion of exon 17 in the spastin gene (SPG4delEx17) was cognitively assessed...

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PMID: 19652142
DOI: 10.1212/WNL.0b013e3181b04c6c

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