Journal Article

DZNE-2020-06833

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Seizures as an early symptom of autosomal dominant Alzheimer's disease.

Vöglein, J. (First author)DZNE* ; Noachtar, S. ; McDade, E. ; Quaid, K. A. ; Salloway, S. ; Ghetti, B. ; Noble, J. ; Berman, S. ; Chhatwal, J. ; Mori, H. ; Fox, N. ; Allegri, R. ; Masters, C. L. ; Buckles, V. ; Ringman, J. M. ; Rossor, M. ; Schofield, P. R. ; Sperling, R. ; Jucker, M.DZNE* ; Laske, C.DZNE* ; Paumier, K. ; Morris, J. C. ; Bateman, R. J. ; Levin, J.DZNE* ; Danek, A. (Last author)DZNE* ; Network, D. I. A.

2019
Elsevier Science Amsterdam [u.a.]

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Please use a persistent id in citations: doi:10.1016/j.neurobiolaging.2018.11.022

Abstract: Our objective was to assess the reported history of seizures in cognitively asymptomatic mutation carriers for autosomal dominant Alzheimer's disease (ADAD) and the predictive value of seizures for mutation carrier status in cognitively asymptomatic first-degree relatives of ADAD patients. Seizure occurrence in the Dominantly Inherited Alzheimer Network observational study was correlated with mutation carrier status in cognitively asymptomatic subjects. Of 276 cognitively asymptomatic individuals, 11 (4%) had experienced seizures, and nine of these carried an ADAD mutation. Thus, in the Dominantly Inherited Alzheimer Network population, seizure frequency in mutation carriers was significantly higher than in noncarriers (p = 0.04), and the positive predictive value of seizures for the presence of a pathogenic mutation was 81.8%. Among cognitively asymptomatic ADAD family members, the occurrence of seizures increases the a priori risk of 50% mutation-positive status to about 80%. This finding suggests that ADAD mutations increase the risk of seizures.

Keyword(s): Adult (MeSH) ; Alzheimer Disease: complications (MeSH) ; Alzheimer Disease: genetics (MeSH) ; Female (MeSH) ; Genes, Dominant: genetics (MeSH) ; Genetic Association Studies (MeSH) ; Heterozygote (MeSH) ; Humans (MeSH) ; Male (MeSH) ; Mutation: genetics (MeSH) ; Observational Studies as Topic (MeSH) ; Predictive Value of Tests (MeSH) ; Risk (MeSH) ; Seizures: etiology (MeSH) ; Seizures: genetics (MeSH)

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Contributing Institute(s):

1. Translational Neurodegeneration (AG Höglinger 1)
2. Cell Biology of Neurological Diseases (AG Jucker)
3. Clinical Neurodegeneration (AG Levin)
4. U Clinical Researchers - München (U Clinical Researchers - München)

Research Program(s):

1. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)
2. 342 - Disease Mechanisms and Model Systems (POF3-342) (POF3-342)

Appears in the scientific report 2019

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Database coverage:
; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF >= 5 ; JCR ; Nationallizenz ; SCOPUS ; Web of Science Core Collection

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