Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

Abstract Alzheimer disease (AD) is a progressive neurodegenerative disorder and the most common form of dementia. The majority of AD cases are sporadic, while up to 5% are families with an early onset AD (EOAD). Mutations in one of the three genes: amyloid beta precursor protein (APP), presenilin 1...

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Bibliographic Details
Main Authors: Håkan Thonberg, Huei-Hsin Chiang, Lena Lilius, Charlotte Forsell, Anna-Karin Lindström, Charlotte Johansson, Jenny Björkström, Steinunn Thordardottir, Kristel Sleegers, Christine Van Broeckhoven, Annica Rönnbäck, Caroline Graff
Format: Article
Language:English
Published: BMC 2017-06-01
Series:Acta Neuropathologica Communications
Subjects:
Alzheimer disease
Whole-exome sequencing
SORL1
Inherited
Familial
Online Access:http://link.springer.com/article/10.1186/s40478-017-0441-9

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