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Frontiers | A Novel Probable Pathogenic PSEN2 Mutation p.Phe369Ser Associated With Early-Onset Alzheimer's Disease in a Chinese Han Family: A Case Report


Department of Neurology, The First Affiliated Hospital of Anhui Medical University, Hefei, China
The pathogenesis of Alzheimer s disease is complex, and early-onset Alzheimer s disease (EOAD) is mostly influenced by genetic factors. Presenilin-1, presenilin-2 (PSEN2), and amyloid precursor protein are currently known as the three main causative genes for autosomal dominant EOAD, with the PSEN2 mutation being the rarest. In this study, we reported a 56-year-old Chinese Han proband who presented with prominent progressive amnesia, aphasia, executive function impairment, and depression 5 years ago. The 3-year follow-up showed that the patient experienced progressive brain atrophy displayed on magnetic resonance imaging (MRI) and dramatic cognitive decline assessed by neuropsychological evaluation. This patient was clinically diagnosed as EOAD based on established criteria. A heterozygous variant (NM 000447.2: c.1106T>C) of PSEN2 was identified for the first time in this patient a ....

United Kingdom , United States , San Diego , Ultrasonicator Covaris , Silva Lopes , Alzheimers Dement , User Tax , National Natural Science Foundation Of China , Department Of Neurology , Sequence Control Software Illumina , Key Research , Development Projects Of Anhui Province , National Institute On , Xgen Exome Research Panel , Mathworks Inc , Exome Aggregation Consortium Ex , Montreal Neurological Institute , Alzheimer Association , Chinese Han , First Affiliated Hospital , Anhui Medical University , Ethics Committee , Computational Anatomy Toolbox , Mini Mental State Examination , Montreal Cognitive Assessment , Cambridge Cognitive Examination Chinese ,

Virtual care for patients with Alzheimer disease and related dementias during the COVID-19 era and beyond


KEY POINTS
Virtual care has the potential to improve access to health care for people with Alzheimer disease and related dementias, especially in the context of the coronavirus disease 19 (COVID-19) pandemic.
Videoteleconferencing is a well-studied means of virtual care that has successfully been used to remotely assess, diagnose and manage such patients.
Successful telemedicine programs often have access to supplemental clinical information to aid in diagnosis and involve interdisciplinary teams to manage patient complexity.
Evidence regarding direct-to-home virtual care for people with Alzheimer disease and related dementias is lacking; this model is associated with unique challenges that must be considered as virtual care becomes a more common approach to health care delivery. ....

United States , Mario Masellis , Mario Masselis , Ontario Brain Institute , Innovation Fund , Canadian Medical Association , Ministry Of Economic Development , Stroke Foundation Centre For Recovery , Weston Brain Institute , Canadian Institutes Of Health Research , Washington University , Ontario Neurodegenerative Disease Research Initiative , Alzheimer Drug Discovery Foundation , Wave Life Sciences , Telephone Interview , Cognitive Status , Mini Mental State Exam , Montreal Cognitive Assessment , Geriatric Depression Scale , Canadian Institutes , Health Research , Economic Development , Drug Discovery Foundation , Brain Canada , Stroke Foundation Centre , Stroke Recovery ,

[Full text] Use of the Taiwanese Depression Questionnaire and the AD8 Qu


Background: Major depressive disorder (MDD) presents with emotional and somatic symptoms and sometimes subjective cognitive complaints (SCCs). This study developed a collaborative method to integrate SCC assessment for evaluating late-life MDD.
Methods: Residents aged > 50 years in the Community Medicine Research Center of Keelung Chang Gung Memorial Hospital in Taiwan during 2017– 2018 were prospectively recruited in this study. The participants were asked to report their depressive tendency and SCCs using the Taiwanese Depression Questionnaire (TDQ) and the AD8, respectively, and were administered psychiatric evaluation through the Mini–International Neuropsychiatric Interview (MINI). The participants were divided into elderly (age≥ 65 years) and older adult (age 50– 65) groups. The MDD predictive powers were assessed using logistic regression and receiver operating characteristic (ROC) curve analyses. ....

Keelung Chang Gung , Community Medicine Research Center , Taiwanese Depression Questionnaire , Geriatric Depression Scale , Northern Taiwan , Keelung Chang Gung Memorial Hospital , Ascertain Dementia , Item Informant , Scoring According , Regression Model , சமூக மருந்து ஆராய்ச்சி மையம் , வயதான மனச்சோர்வு அளவு , வடக்கு டைவாந் , உருப்படி தகவலறிந்தவர் , மதிப்பெண் இசைய , பின்னடைவு மாதிரி ,