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Published online before print November 23, 2005, doi:10.1212/01.wnl.0000191360.08881.12)
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NEUROLOGY 2006;66:108-111
© 2006 American Academy of Neurology
Brief Communications

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

M. G. Marrosu, MD, G. Floris, MD, G. Costa, BD, L. Schirru, 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.

Address correspondence and reprint requests to Dr. M. Giovanna Marrosu, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis, 2, 09124, Cagliari, Italy; e-mail: gmarrosu{at}unica.it

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.

This article was previously published in electronic format as an Expedited E-Pub on November 23, 2005, at www.neurology.org.

Disclosure: The authors report no conflicts of interest.

Received March 30, 2005. Accepted in final form September 12, 2005.






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