Neurology
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Published online before print November 23, 2005, doi:10.1212/01.wnl.0000191360.08881.12)
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Received March 30, 2005
Accepted September 12, 2005

Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation

M. G. Marrosu MD*, G. Floris MD, G. Costa BD, L. Shirru BD, G. Spinicci MD, M. V. Cherchi MD, M. Mura MD, M. G. Mascia MD, and E. Cocco MD

From the Centro Sclerosi Multipla, Dipartimento di Scienze Cardiovascolari e Neurologiche (Drs. Marrosu, Floris, Costa, Schirru, Spinicci, Mascia, and Cocco) and Dipartimento di Radiologia (Drs. Cherchi and Mura), University of Cagliari, Italy.


* To whom correspondence should be addressed. E-mail: gmarrosu{at}unica.it.

Abstract-- The authors describe four members of a family with a novel P284S presenilin 1 mutation presenting a clinical phenotype characterized by early-onset dementia, paratetraparesis, dysarthria, dysphagia, and marked involvement of brain white matter. The distinctive clinical and MRI findings in the family studied extend the phenotypic spectrum of dementia associated with mutation of the PS1 gene.






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