Exome sequencing identifies two novel PSEN1 mutations (p.L166V and p.S230R) in British early onset Alzheimer’s disease
نویسندگان
چکیده
*The Alzheimer’s Research UK (ARUK) Consortium: Peter Passmore, David Craig, Janet Johnston, Bernadette McGuinness, Stephen Todd, Queen’s University Belfast, UK; Reinhard Heun, Royal Derby Hospital, UK; Heike Kölsch, University of Bonn, Germany; Patrick G. Kehoe, University of Bristol, UK; Nigel M. Hooper, University of Leeds, UK; Emma R.L.C. Vardy, University of Newcastle, UK; David M. Mann, Stuart Pickering-Brown, University of Manchester, UK; Kristelle Brown, James Lowe, Kevin Morgan, University of Nottingham, UK; A. David Smith, Gordon Wilcock, Donald Warden, University of Oxford (OPTIMA), UK; Clive Holmes, University of Southampton, UK.
منابع مشابه
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease☆
Early-onset Alzheimer's disease (EOAD) represents 1%-2% of the Alzheimer's disease (AD) cases, and it is generally characterized by a positive family history and a rapidly progressive symptomatology. Rare coding and fully penetrant variants in amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are the only causative mutations reported for autosomal dominant AD. Thus...
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Alzheimer's disease (AD), the most common form of senile dementia, is a genetically complex disorder. In most Asian countries, the population and the number of AD patients are growing rapidly, and the genetics of AD has been extensively studied, except in Japan. However, recent studies have been started to investigate the genes and mutations associated with AD in Korea, the People's Republic of...
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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 prominent ataxia, Parkinsonism, spasticity, dystonia, action tremor, myoclonus, bulbar symptoms, sei...
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