Seizures as an early symptom of autosomal dominant Alzheimer’s disease

Jonathan Vöglein, Soheyl Noachtar, Eric McDade, Kimberly A. Quaid, Stephen Salloway, Bernardino Ghetti, James Noble, Sarah Berman, Jasmeer Chhatwal, Hiroshi Mori, Nick Fox, Ricardo Allegri, Colin L. Masters, Virginia Buckles, John M. Ringman, Martin Rossor, Peter R. Schofieldo, Reisa Sperling, Mathias Jucker, Christoph Laske, Katrina Paumier, John C. Morris, Randall J. Bateman, Johannes Levina, Adrian Daneka, for the Dominantly Inherited Alzheimer Network. Neurobiology of Aging, Volume 76, April 2019, Pages 18-23 Read More


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. © 2018 Elsevier Inc.

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Posted on January 15, 2019
Posted in: HPAN, Neurodegeneration, Publications Authors: ,