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Neurology 2000;55:1055-1057
© 2000 American Academy of Neurology
Brief Communications

A new mutation in the prion protein gene: A patient with dementia and white matter changes

B. van Harten, MD, W. A. van Gool, MD, PhD, I. M. van Langen, MD, J. M. Deekman, BCS, P. H. S. Meijerink, PhD and H. C. Weinstein, MD, PhD

From the Department of Neurology (Drs. van Harten and Weinstein), Sint Lucas Andreas Hospital; and the Departments of Neurology (Dr. van Gool, P.H.S. Meijerink, and J. Deekman) and Clinical Genetics (Dr. van Langen), Academic Medical Centre, University of Amsterdam, the Netherlands.

Address correspondence and reprint requests to Dr. B. van Harten, Department of Neurology, Sint Lucas Andreas Hospital, Jan Tooropstraat 164, 1061 AE Amsterdam, the Netherlands.

The authors describe the clinical characteristics, MRI abnormalities, and molecular findings in a patient with a novel variant of a two-octarepeat insertion mutation in the prion protein gene. This patient presented with moderately progressive dementia of presenile onset and gait ataxia. MRI showed extensive cortical atrophy and white matter abnormalities. The mutation consists of a two-octarepeat insertion mutation and irregularities in the nucleotide sequence of the octarepeat region.




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