Anna I Jarmolowicz1, Huei-Yang Chen1, Peter K Panegyres2. 1. Neurodegenerative Disorders Research Pty Ltd, Subiaco, West Perth, Australia. 2. Neurodegenerative Disorders Research Pty Ltd, Subiaco, West Perth, Australia research@ndr.org.au.
Abstract
AIM: To investigate the patterns of inheritance and gene mutation status in early-onset dementia (EOD). METHODS: Data were collected on 202 consecutive patients presenting to an EOD clinic. Early-onset Alzheimer's disease (EOAD, n = 120) and early-onset frontotemporal dementia (EOFTD, n = 82) were studied. RESULTS: The majority of participants, 72.5% with EOAD and 74.4% with EOFTD, did not have a positive family history of dementia. An autosomal dominant pattern of inheritance was observed in 14.2% of patients with EOAD and 13.4% of patients with FTD. Of those with an autosomal dominant pattern of inheritance, 11.8% of EOAD and 45.5% of FTD probands had known pathogenic mutations. Only 1.6% of the total population of EOAD and 7.3% of EOFTD possessed known gene mutations. CONCLUSION: Early-onset dementia does not appear to be a strongly inherited autosomal dominant condition. The majority of patients were sporadic. Known mutations were uncommon and do not explain the total autosomal dominant burden.
AIM: To investigate the patterns of inheritance and gene mutation status in early-onset dementia (EOD). METHODS: Data were collected on 202 consecutive patients presenting to an EOD clinic. Early-onset Alzheimer's disease (EOAD, n = 120) and early-onset frontotemporal dementia (EOFTD, n = 82) were studied. RESULTS: The majority of participants, 72.5% with EOAD and 74.4% with EOFTD, did not have a positive family history of dementia. An autosomal dominant pattern of inheritance was observed in 14.2% of patients with EOAD and 13.4% of patients with FTD. Of those with an autosomal dominant pattern of inheritance, 11.8% of EOAD and 45.5% of FTD probands had known pathogenic mutations. Only 1.6% of the total population of EOAD and 7.3% of EOFTD possessed known gene mutations. CONCLUSION: Early-onset dementia does not appear to be a strongly inherited autosomal dominant condition. The majority of patients were sporadic. Known mutations were uncommon and do not explain the total autosomal dominant burden.
Authors: Seong Soo An; Sun Ah Park; Eva Bagyinszky; Sun Oh Bae; Yoon-Jeong Kim; Ji Young Im; Kyung Won Park; Kee Hyung Park; Eun-Joo Kim; Jee Hyang Jeong; Jong Hun Kim; Hyun Jeong Han; Seong Hye Choi; SangYun Kim Journal: Clin Interv Aging Date: 2016-12-15 Impact factor: 4.458
Authors: Jan Verheijen; Tobi Van den Bossche; Julie van der Zee; Sebastiaan Engelborghs; Raquel Sanchez-Valle; Albert Lladó; Caroline Graff; Håkan Thonberg; Pau Pastor; Sara Ortega-Cubero; Maria A Pastor; Luisa Benussi; Roberta Ghidoni; Giuliano Binetti; Jordi Clarimon; Alberto Lleó; Juan Fortea; Alexandre de Mendonça; Madalena Martins; Oriol Grau-Rivera; Ellen Gelpi; Karolien Bettens; Ligia Mateiu; Lubina Dillen; Patrick Cras; Peter P De Deyn; Christine Van Broeckhoven; Kristel Sleegers Journal: Acta Neuropathol Date: 2016-03-30 Impact factor: 17.088