Brain, Vol. 116, No. 2, 309-324, 1993
© 1993 Oxford University Press
research-article |
Familial Alzheimer's disease A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine 
glycine)
1National Hospital for Neurology and Neurosurgery London, UK 2Alzheimer Disease Research Group, St Mary's Hospital London, UK 3MRC Cyclotron Unit, Hammersmith Hospital London, UK
Correspondence to:
Correspondence to: Dr Martin Rossor, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1 3BG, UK.
Ten affected individuals are described from a kindred with autosomal dominant familial Alzheimer's disease in which a mutation in the amyloid precursor protein gene results in a valine to glycine substitution at amyloid precursor protein 717 which co-segregates with the disease. The mean age at onset of symptoms was 52 years with a range from 40 years to 67 years. The median duration of the disease was 11 years, with a range of 7–16 years. All individuals fulfilled the National Institute for Neurological and Communicative Disorders and Stroke criteria for probable Alzheimer's disease. A homogeneous clinical and neuropsychological pattern was evident within the family. Myoclonic jerks, seizures, depression and a lack of insight were common features. Positron emission tomography demonstrated biparietal bitemporal hypometabolism in the one affected individual who was studied. The diagnosis was confirmed histopathologically in one individual.
Received July 2, 1992. Revised September 16, 1992. Accepted September 28, 1992.
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