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Titolo:
Penetrance and phenotypic expression of a mutation linked to Creutzfeldt-Jakob disease in the elderly
Autore:
Frenkel, YR; Ben-Israel, J; Korczyn, AD; Chapman, J;
Indirizzi:
Tel78viv Univ, Sieratzki Chair Neurol, Sackler Fac Med, Dept Neurol, IL-699 Tel Aviv Univ Tel Aviv Israel IL-69978 kler Fac Med, Dept Neurol, IL-699 Mishan Geriatr Hosp, Natania, Israel Mishan Geriatr Hosp Natania IsraelMishan Geriatr Hosp, Natania, Israel
Titolo Testata:
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
fascicolo: 1, volume: 10, anno: 1999,
pagine: 47 - 50
SICI:
1420-8008(199901/02)10:1<47:PAPEOA>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
LIBYAN JEWS; PRION PROTEIN; DEMENTIA; GENE;
Keywords:
Creutzfeldt-Jakob disease, genetics; senile dementia; prion diseases; Libya; Jews;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Korczyn, AD Tel78viv Univ, Sieratzki Chair Neurol, Sackler Fac Med, Dept Neurol, IL-699 Tel Aviv Univ Tel Aviv Israel IL-69978 , Dept Neurol, IL-699
Citazione:
Y.R. Frenkel et al., "Penetrance and phenotypic expression of a mutation linked to Creutzfeldt-Jakob disease in the elderly", DEMENT G C, 10(1), 1999, pp. 47-50

Abstract

We have previously reported several carriers of the PRNP E200K point mutation among subjects aged over 65 years. In order to examine the prevalence of this mutation among demented subjects of Libyan and Tunisian origin and the clinical characteristics associated with it, we screened 58 elderly subjects belonging to this ethnic group. Five mutation carriers were identified, ail of whom had cognitive deterioration consistent with primary degenerative dementia. All had low Hachinski ischemic scores (0.8 +/- 0.8, mean +/- SD) as compared with noncarriers (6.7 +/- 3.0; p = 0.011, Wilcoxon rank sumtest). In addition to the cognitive decline, 4 carriers had additional cerebellar, pyramidal, or extrapyramidal findings compatible with the diagnosis of possible or probable Creutzfeldt-Jakob disease.

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Documento generato il 15/07/20 alle ore 07:38:30