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

被引：0
作者：
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
机构：
[1] Ludwig-Maximilians-Universität München,Center for Neuropathology and Prion Research
[2] Ludwig-Maximilians-Universität München,Department of Neurology
[3] Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) e.V.- München,Institute of Human Genetics
[4] Justus-Liebig-Universität Giessen,Institute for Neuropathology
[5] Munich Cluster of Systems Neurology (SyNergy),Institute of Human Genetics
[6] University of Münster,undefined
[7] University of Münster,undefined
[8] Institute of Pathology,undefined
[9] Klinikum Nürnberg Nord,undefined
来源：
Journal of Neural Transmission | 2015年 / 122卷
关键词：
Autosomal dominant Alzheimer’s disease (ADAD); Early onset Alzheimer’s disease (EOAD); Presenilin; mutation; Spastic paraparesis; Alcoholism;
D O I：
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中图分类号：
学科分类号：
摘要：
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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页码：1715 / 1719
页数：4
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