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01-12-2015 | Neurology and Preclinical Neurological Studies - Short communication

Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer’s disease

Authors: Sigrun Roeber, Felix Müller-Sarnowski, Julia Kress, Dieter Edbauer, Tanja Kuhlmann, Frank Tüttelmann, Christoph Schindler, Pia Winter, Thomas Arzberger, Ulrich Müller, Adrian Danek, Hans A. Kretzschmar

Published in: Journal of Neural Transmission | Issue 12/2015

Abstract

Presenilin 1 (PSEN1) mutations are the major cause of autosomal dominant Alzheimer’s disease (ADAD). Here we report three novel PSEN1 mutations: Ile238_Lys239insIle, Ala246Pro and Ala164Val from patients who manifested in their twenties, forties and seventies, respectively, with variant clinical presentations of dementia. These cases exemplify the tremendous heterogeneity of clinical phenotypes and age of onset associated with PSEN1 mutations. The possibility of ADAD—not previously suspected in two of our patients—should always be considered in neurodegenerative conditions albeit they might neither exhibit the typical clinical picture of Alzheimer’s disease nor early onset dementia, which is regarded the primary clinical sign of hereditary neurodegeneration.

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Title: Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer’s disease
Authors: Sigrun Roeber
Felix Müller-Sarnowski
Julia Kress
Dieter Edbauer
Tanja Kuhlmann
Frank Tüttelmann
Christoph Schindler
Pia Winter
Thomas Arzberger
Ulrich Müller
Adrian Danek
Hans A. Kretzschmar
Publication date: 01-12-2015
Publisher: Springer Vienna
Published in: Journal of Neural Transmission / Issue 12/2015
Print ISSN: 0300-9564
Electronic ISSN: 1435-1463
DOI: https://doi.org/10.1007/s00702-015-1450-0

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Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer’s disease

Abstract

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