Dementia in SPG4 hereditary spastic paraplegia

• DOI: 10.1212/wnl.0b013e3181b04c6c
• Publication Date: 2009-08-03T20:30:57Z
• Authors: S. Murphy; G. Gorman; C. Beetz; P. Byrne; M. Dytko; P. McMonagle; K. Kinsella; M. Farrell; M. Hutchinson
• Keywords: Hereditary Spastic Paraplegia; Paraplegia

<b>Background:</b> Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis (HSP) linked to the SPG4 locus. There only one postmortem examination described; not all accept that progressive cognitive decline is a feature of this disorder. <b>Objective:</b> A family with SPG4-HSP known have deletion exon 17 spastin gene (SPG4delEx17) was cognitively assessed over 7-year period. The index member died performed. <b>Methods:</b> Thirteen members older than 40 years were clinically using Cambridge Assessment presence SPG4delEx17 assessed; neuropathologic brain <b>Results:</b> occurred 6 13 4 60 years. Two genetic deletions identified: 12 SPG6 (SPG6del) 5. Eight individuals had only; evidence impairment. Four both SPG6del; 2 these One SPG6del alone neither HSP nor case dementia; showed widespread ubiquitin positivity within neocortex white matter. <b>Conclusion:</b> due gene.