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Article

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

Journal of neural transmission (Vienna, Austria : 1996) - 1 Dec 2015

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26350633
DOI: 10.1007/s00702-015-1450-0

Genes

PSEN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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