Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.

Current Alzheimer Research
Chenhui MaoJing Gao

Abstract

Alzheimer's disease with a causative genetic mutation (AD-CGM) is an uncommon form, characterized by a heterogeneous clinical phenotype and variations in the genotype of racial groups affected. We aimed to systemically describe the phenotype variance and mutation spectrum in the large sample size of the Peking Union Medical College Hospital (PUMCH) cohort, Beijing, China. Next-generation sequencing (NGS) was carried out in 1108 patients diagnosed with dementia. A total of 40 Han Chinese patients with three AD gene mutations were enrolled. A systemic review of all the patients was performed, including clinical history, neurocognitive assessment, brain magnetic resonance imaging, and cerebrospinal fluid (CSF) biomarkers. We studied the following gene mutation variants: 12 AβPP, 13 PSEN1, and 9 PSEN2, and 23 among them were novel. Most of them were early-onset, but PSEN1 mutation carriers had the youngest onset age. The commonest symptoms were similar to those of AD, including an amnestic syndrome, followed by psychiatric symptoms and movement disorder. On MRI, parietal and posterior temporal atrophy was prominent in PSEN1 and PSEN2 mutation carriers, while AβPP mutation carriers had more vascular changes. The CSF biomarkers profi...Continue Reading

References

Aug 1, 1987·AJR. American Journal of Roentgenology·F FazekasR A Zimmerman
Aug 2, 2003·Annals of Neurology·Pau PastorAlison M Goate
Feb 18, 2009·Journal of Alzheimer's Disease : JAD·Andrew J Larner, Mark Doran
Apr 14, 2010·Biomarkers in Medicine·Natalie S Ryan, Martin N Rossor
Apr 6, 2012·Journal of Alzheimer's Disease : JAD·David WallonUNKNOWN collaborators of GMAJ project
Jun 26, 2012·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Liyong WuSerge Gauthier
Feb 6, 2013·Journal of Alzheimer's Disease : JAD·Rachael I ScahillNick C Fox
Aug 21, 2013·Journal of Alzheimer's Disease : JAD·A J Larner
Jun 15, 2014·Neurology·Davis C RymanUNKNOWN Dominantly Inherited Alzheimer Network
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Nov 2, 2016·Clinical Interventions in Aging·Eva BagyinszkySangYun Kim
Mar 30, 2017·PLoS Medicine·Hélène-Marie LanoiseléeUNKNOWN collaborators of the CNR-MAJ project
Apr 15, 2018·Alzheimer's & Dementia : the Journal of the Alzheimer's Association·Clifford R JackUNKNOWN Contributors
Jan 9, 2020·Alzheimer's & Dementia : the Journal of the Alzheimer's Association·Longfei JiaJianping Jia

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