publication . Article . Other literature type . 2012

Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations

Lee, Grace J; Lu, Po H; Medina, Luis D; Rodriguez-Agudelo, Yaneth; Melchor, Stephanie; Coppola, Giovanni; Braskie, Meredith N; Hua, Xue; Apostolova, Liana G; Leow, Alex D; ...
Open Access
  • Published: 20 Oct 2012 Journal: Journal of Neurology, Neurosurgery & Psychiatry, volume 84, pages 154-162 (issn: 0022-3050, eissn: 1468-330X, Copyright policy)
  • Publisher: BMJ
Abstract
Background Mutations in the presenilin ( PSEN1 , PSEN2 ) and amyloid precursor protein ( APP ) genes cause familial Alzheimer9s disease (FAD) in a nearly fully penetrant, autosomal dominant manner, providing a unique opportunity to study presymptomatic individuals who can be predicted to develop Alzheimer9s disease (AD) with essentially 100% certainty. Using tensor-based morphometry (TBM), we examined brain volume differences between presymptomatic and symptomatic FAD mutation carriers and non-carrier (NC) relatives. Methods Twenty-five mutation carriers and 10 NC relatives underwent brain MRI and clinical assessment. Four mutation carriers had dementia (MUT-Dem...
Subjects
Medical Subject Headings: congenital, hereditary, and neonatal diseases and abnormalitiesmental disorders
free text keywords: Surgery, Psychiatry and Mental health, Clinical Neurology, Alzheimer's disease, medicine.disease, medicine, business.industry, business, PSEN1, Dementia, Putamen, Pathology, medicine.medical_specialty, Population, education.field_of_study, education, Temporal lobe, Atrophy, Brain size, Article
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publication . Article . Other literature type . 2012

Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations

Lee, Grace J; Lu, Po H; Medina, Luis D; Rodriguez-Agudelo, Yaneth; Melchor, Stephanie; Coppola, Giovanni; Braskie, Meredith N; Hua, Xue; Apostolova, Liana G; Leow, Alex D; ...