Presymptomatic Signs in Healthy CJD Mutation Carriers

Vol. 19, No. 5-6, 2005

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Original Research Article

Presymptomatic Signs in Healthy CJD Mutation Carriers
Ariela Gigi^a, Eli Vakil^b, Ester Kahana^c, Uri Hadar^d

^aPsychobiology Research Unit and
^dCognitive Unit, Department of Psychology, Tel-Aviv University, Tel Aviv;
^bNeuropsychology Department, Bar-Ilan University, and
^cNeurology Department, Barzilai Medical Center, Ashkelon, Israel

Address of Corresponding Author

Dement Geriatr Cogn Disord 2005;19:246-255 (DOI: 10.1159/000084549)

Key Words

Creutzfeldt-Jacob disease
Anxiety
Dementia
Preclinical signs
PRNP gene
Neuropsychology
Prion mutation

Abstract

Creutzfeldt-Jacob disease (CJD) is a rapidly progressing dementia with neurological, psychiatric and cognitive symptoms. We focused our study on the familial CJD form among Libyan Jews (the E200K mutation), trying to identify preclinical neuropsychological signs in mutation carriers to facilitate early diagnosis of the disease. A wide range of neuropsychological tests was administered to 27 healthy volunteers, all first-degree relatives of genetic CJD patients. Thirteen of our participants were gene mutation carriers (E200K) and 14 controls. The healthy mutation carriers reported significantly lower Trait and higher State anxiety scores. Repeated Measure analysis showed statistical significance. The Anxiety Index (State-Trait Anxiety Score) progressed with age in the carriers' group but not in the controls. Since this was more pronounced in the older subjects, we suggest that abnormal stress mechanisms precede the clinical onset of CJD. Cognitive differences have also been found between carriers and controls, especially in visual recognition of pictured objects. Both kinds of differences (anxiety levels and cognitive deficits) were most pronounced in elderly subjects. This study is the first to show any dysfunction in healthy CJD mutation carriers.

Author Contacts

Dr. Ariela Gigi
The Joseph Sagol Neuroscience Research Center, The Chaim Sheba Medical Center
Tel Hashomer 5621 (Israel)
Tel. +972 3 5304753, Fax +972 3 5304752
E-Mail Ariela.Gigi@sheba.health.gov.il

Article Information

Accepted: September 9, 2004
Published online: March 18, 2005
Number of Print Pages : 10
Number of Figures : 1, Number of Tables : 4, Number of References : 67

Medline Abstract (ID 15775715)

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