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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 ,

Scientists reveal blurry perception and brain's molecular mechanism in major depressive disorder

Zhejiang University
Depression is commonly associated with cognitive deficits in memory and emotions like sadness. This association alone, however, neglects the intense difference in how subjects perceive others and the world in this mental state. Depressed subjects often perceive their environment in an unsharp and blurry way. That, in turn, affects our emotion, cognition and behavior since we act and think according to the way we perceive. The research teams of SONG Xuemei at the Zhejiang University School of Medicine, TAN Zhonglin at the Zhejiang University Affiliated Mental Health Center & Hangzhou Seventh People’s Hospital, and Georg Northoff at the University of Ottawa published an article titled “Reduction of higher-order occipital GABA and impaired visual perception in acute major depressive disorder” online on April 16th in Molecular Psychiatry. This research sheds a novel light on depressed subjects’ perception and its biochemical origins. ....

Georg Northoff , Zhejiang University , Zhejiang University School Of Medicine , University Of Ottawa , Zhejiang University School , Hangzhou Seventh People , Hamilton Depression Scale , Magnetic Resonance Spectroscopy , ஜெஜியாங் பல்கலைக்கழகம் , ஜெஜியாங் பல்கலைக்கழகம் பள்ளி ஆஃப் மருந்து , பல்கலைக்கழகம் ஆஃப் ஆடவா , ஜெஜியாங் பல்கலைக்கழகம் பள்ளி , ஹாமில்டன் மனச்சோர்வு அளவு , காந்த அதிர்வு ஸ்பெக்ட்ரோஸ்கோபி ,

Is Anti-Psychiatry Harmful? - Mad In America

The notion that one can help a despondent person by giving mood-altering drugs while ignoring the reason for despondency is a travesty. ....

United States , New York , Columbia University , United Kingdom , University Of Rochester , Jonathan Stea , Robert Whitaker , Joseph Glenmullen , Dorothea Dix , Jeffrey Lieberman , John Feighner , Jeffreya Lieberman , Joseph Pierre , David Jolly , John Gray , Nicholle Peralta , John Mccain , American Psychiatric Association , Random House , University Of Rochester Medical Center , Columbia University College Of Physicians , Department Of Psychiatry , Washington University , University Of British Columbia , University Of Calgary , Psychiatric Research ,