Penetrance and phenotypic expression of a mutation linked toCreutzfeldt-Jakob disease in the elderly
Y.R. Frenkel
Bok Engelsk 1999
| Utgitt | 1999
|
|---|---|
| Omfang | Side 47- 50
|
| Opplysninger | We have previously reported several carriers of the PRNP E200K pointmutation among subjects aged over 65 years. In order to examine theprevalence of this mutation among demented subjects of Libyan andTunisian origin and the clinical characteristics associated with it,we screened 58 elderly subjects belonging to this ethnic group. Fivemutation carriers were identified, ail of whom had cognitivedeterioration consistent with primary degenerative dementia. All hadlow Hachinski ischemic scores (0.8 +/- 0.8, mean +/- SD) as comparedwith noncarriers (6.7 +/- 3.0; p = 0.011, Wilcoxon rank sum test). Inaddition to the cognitive decline, 4 carriers had additionalcerebellar, pyramidal, or extrapyramidal findings compatible with thediagnosis of possible or probable Creutzfeldt-Jakob disease.
|
| Emner |
