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NEUROLOGY 2004;63:1702-1704
© 2004 American Academy of Neurology
Brief Communications

A presenilin 1 R278I mutation presenting with language impairment

A. K. Godbolt, MRCP, J. A. Beck, BSc, J. Collinge, MD, P. Garrard, MD, PhD, J. D. Warren, FRACP, N. C. Fox, MD and M. N. Rossor, MD

From the Dementia Research Centre (Drs. Godbolt, Warren, Fox, and Rossor), MRC Prion Unit (J.A. Beck and Dr. Collinge), Department of Neurodegenerative Disease, Institute of Neurology, and Institute of Cognitive Neuroscience (Dr. Garrard), University College, London, UK.

Address correspondence and reprint requests to Dr. M.N. Rossor, Dementia Research Centre, Box 16, National Hospital for Neurology and Neurosurgery, Institute of Neurology, Queen Square, London WC1N 3BG, UK; e-mail: m.rossor{at}dementia.ion.ucl.ac.uk

Presenilin (PSEN)1 mutations are responsible for many cases of autosomal dominant Alzheimer disease (AD), although the clinical spectrum has not been fully defined. The authors describe two members of a kindred with a novel PSEN1 mutation (R278I) presenting with language impairment and relative preservation of memory. Screening for PSEN1 mutations may be appropriate in cases of familial dementia even where the clinical phenotype is not typical of AD.

Received November 21, 2003. Accepted in final form June 21, 2004.




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