p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder

p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder

Mutations in presenilin 1 (PSEN1) are the most common cause of autosomal dominant Alzheimer’s disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a wide range of atypical symptoms, including pro...

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Bibliographic Details
Main Authors: Silke Appel-Cresswell, Ilaria Guella, Anna Lehman, Dean Foti, Matthew J. Farrer
Format: Article
Language:English
Published: Korean Movement Disorders Society 2018-01-01
Series:Journal of Movement Disorders
Subjects:
Neurodegeneration
exome
bioinformatics
Alzheimer
mutation
Online Access:http://www.e-jmd.org/upload/jmd-17066.pdf

Internet

http://www.e-jmd.org/upload/jmd-17066.pdf

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