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Brain, Vol. 115, No. 3, 687-710, 1992
© 1992 Guarantors of Brain

research-article

INHERITED PRION DISEASE WITH 144 BASE PAIR GENE INSERTION: 2. CLINICAL AND PATHOLOGICAL FEATURES

J. COLLINGE1,3, J. BROWN1,3, J. HARDY1, M. MULLAN1, M. N. ROSSOR3, H. BAKER8, T. J. CROW8, R. LOFTHOUSE8, M. POULTER8, R. RIDLEY8, F. OWEN9, C. BENNETT4, G. DUNN10, A. E. HARDING5, N. QUINN5, B. DOSHI6, G. W. ROBERTS2, M. HONAVAR7, I. JANOTA7 and P. L. LANTOS7

1Department of Biochemistry and Molecular Genetics Queen Square 2Department of Anatomy and Cell Biology, St Mary's Hospital Medical School Queen Square 3Department of Neurology, St Mary's Hospital Queen Square 4Division of Medical and Molecular Genetics, Guy's Hospital Queen Square 5Institute of Neurology Queen Square 6Department of Neuropathology, Brook Hospital London 7Department of Neuropathology, Institute of Psychiatry London 8Division of Psychiatry, Clinical Research Centre Harrow 9Department of Physiological Sciences, University of Manchester Manchester, UK 10Department of Radiology, Concord Hospital Concord, Australia

Correspondence to: Correspondence to: Dr J. Collinge, Department of Neurology, St Mary's Hospital, London W2 1NY, UK.

A large family with autosomal dominant segregation of presenile dementia, and other neurological and behavioural features is described. At various times, family members have carried diagnoses of Alzheimer's disease, Huntington's disease, Parkinson's disease, myoclonic epilepsy, atypical dementia, Pick's disease, Creutzfeldt-Jakob disease and Gerstmann-Straussler syndrome. Molecular genetic studies have enabled classification of this disease at the molecular level as one of the group of inherited prion diseases. Here we describe the phenotype of inherited prion disease (PrP 144 bp insertion).


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