Brain, Vol. 122, No. 10, 1805-1806,
October 1999
© 1999 Oxford University Press
Editorial |
Genetic testing – to screen or not to screen?
Neurosciences Group, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
In this issue of Brain, the paper by Mallucci and colleagues details the clinical features and molecular characterization of the prion protein gene, PNRP, in a large English/Irish family with an autosomal dominant syndrome of presenile dementia with ataxia and other neuropsychiatric features (Mallucci et al., 1999
). The phenotype of the affected individuals in this pedigree varies widely, ranging from dementia at a young age to a cerebellar syndrome, and from marked early extrapyramidal features to pyramidal signs, myoclonus, emotional lability and a pseudobulbar syndrome. Over the years many different diagnoses had been attributed to the affected individuals, including multiple sclerosis, dementia, cortico-basal degeneration, Creutzfeldt–Jakob disease (CJD), new variant CJD and Gerstmann–Sträussler–Scheinker syndrome. Molecular studies, however,
References