Brain, Vol. 115, No. 3, 675-685, 1992
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INHERITED PRION DISEASE WITH 144 BASE PAIR GENE INSERTION: 1. GENEALOGICAL AND MOLECULAR STUDIES
1Division of Psychiary, Clinical Research Centre Harrow 2Department of Physiological Sciences, Manchester University Manchester 3Department of Biochemistry and Molecular Medicine, St Mary's Hospital London, UK 4Department of Clinical Neurology, The National Hospital London, UK 5Division of Medical and Molecular Genetics, Guy's Hospital London, UK 6Department of Pathology, Brook General Hospital London, UK
Correspondence to:
Correspondence to: Dr T. J. Crow, Division of Psychiatry, Clinical Research Centre, Watford Road, Harrow, Middlesex HAI 3UJ, UK.
Genealogical and molecular studies were carried out in four families in which early onset dementia is inherited as an autosomal dominant. These studies indicated that the four families derive from four siblings whose parents were born in the late 18th century in South-East England. The disease was found to be closely linked to a 144 bp insertion within the open reading frame of the prion protein (PrP) gene with a maximum LOD score of 11.02 at zero recombination. Within the general population the PrP gene is polymorphic at codon 129 (allele frequency approximately 30% valine, 70% methionine). The insertion in this family is always within a methionine-129 allele. The age at death of affected individuals whose normal allele encoded methionine at codon 129 was significantly lower than those normal allele encoded valine. The clinical features which were very variable and the neuropathological findings, which sometimes included spongiform encephalopathy, but which often did not, are described fully in the accompanying article (Collinge et al., 1992).
Received September 23, 1991. Revised December 19, 1991. Accepted January 11, 1992.
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