On this page you will find a collection of young onset dementia research studies related to genetics. They have been selected by Dr Janet Carter, Consultant Psychiatrist, North-East London Foundation Trust and Dr Hilda Hayo, Dementia UK. Some of the links we provide are to the abstract only. For a full paper it may be necessary to subscribe to the site or to pay a fee.
Title - Alzheimer’s Disease: From Genetic Variants to the Distinct Pathological Mechanisms
Summary - 2017 review - Comparing the known genetics of late and early onset AD. Click here
Title - Genetic screening in sporadic ALS and FTD
Summary - 2017 Viewpoint - This article considers the arguments for and against offering routine genetic testing to all those with sporadic ALS or FTD. Click here
Title - Molecular genetics of early-onset Alzheimer's disease revisited
Summary - 2016 review - Summarising the current knowledge of EOAD genetics and its role in ongoing approaches to understand the biology of AD and disease symptomatology as well as developing new therapeutics. Click here
Title - Genetics of Vascular Dementia: Systematic Review and Meta-Analysis
Summary - 2015 review - This study is a meta-analysis on associations between genetic polymorphisms of any gene and Vascular dementia (VaD) to investigate the genetics of VaD. Click here
Title - Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study
Summary - 2013 study - A longitudinal study spanning over 8 years and including 17 asymptomatic individuals with CHMP2B mutations was conducted to assess the earliest neuropsychological changes in autosomal dominant neurodegenerative disease frontotemporal dementia (FTD) linked to chromosome 3 (FTD-3). Click here
Title - Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
Summary - 2012 study - This study determines the regional pattern of brain atrophy associated with the C9ORF72 gene mutation, and which regions best differentiate C9ORF72 from subjects with mutations in tau and progranulin, and from sporadic frontotemporal dementia. Click here
Title - Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
Summary - 2012 study - The aim of this study was to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Click here