Results 131 to 140 of about 92,917 (264)

Pathological progression induced by the frontotemporal dementia-associated R406W tau mutation in patient-derived iPSCs [PDF]

, 2019
Mutations in the microtubule-associated protein tau (MAPT) gene are known to cause familial frontotemporal dementia (FTD). The R406W tau mutation is a unique missense mutation whose patients have been reported to exhibit Alzheimer\u27s disease (AD)-like ...
et al,, Karch, Celeste M, Nakamura, Mari
core   +1 more source

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, EarlyView.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

Neuropathology of frontotemporal lobar degeneration: A review

Dementia & Neuropsychologia
Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. Three main clinical variants are widely recognized within the FTLD spectrum: the behavioural variant of frontotemporal dementia (bvFTD), semantic dementia (SD)
Valéria Santoro Bahia, Leonel Tadao Takada, Vincent Deramecourt   +2 more
doaj   +1 more source

Mini social cognition and emotional assessment: Diagnostic performance and neural correlates in behavioural‐variant frontotemporal dementia

Journal of Neuropsychology, EarlyView.
Abstract We aimed at validating the Mini Social Cognition and Emotional Assessment (Mini‐SEA) in a German cohort of mildly impaired behavioural‐variant frontotemporal dementia (bvFTD) patients and healthy controls. The Mini‐SEA comprises the Facial Emotion Recognition Test (FERT) and the Faux Pas Test (FPT) measuring Theory of Mind (ToM) abilities in ...
Cem Doğdu, Neeraj Upadhyay, Ingo Frommann, Luca Kleineidam, Andreas Johnen, Melina Stark, Sandra Roeske, Annika Spottke, Anna Gamez, Gabor C. Petzold, Louise Droste zu Senden, Julian Hellmann‐Regen, Stefan Hetzer, Klaus Fliessbach, Carolin Miklitz, Emrah Düzel, Falk Lüsebrink, Wenzel Glanz, Stefan Teipel, Ingo Kilimann, Josef Priller, Eike Jakob Spruth, Johannes Prudlo, David Mengel, Klaus Scheffler, Matthis Synofzik, Anja Schneider, Michael Wagner   +27 more
wiley   +1 more source

Exploring Theory of Mind abilities in patients with probable idiopathic normal pressure hydrocephalus

Journal of Neuropsychology, EarlyView.
Abstract This study investigated Theory of Mind (ToM) deficits in patients with suspected idiopathic normal pressure hydrocephalus (iNPH), a condition affecting motor, cognitive and autonomic functions. Given the overlap between ToM‐related neural networks and those affected in iNPH, we examined whether ToM impairments are a feature of the disease ...
Akrivi Vatsi, George Stranjalis, Stylianos Gkatzonis, Christos Koutsarnakis, Eleftherios Neromyliotis, Aristotelis Kalyvas, Ion N. Beratis, Evangelos Drosos, Spyridon Komaitis, Evangelia Liouta   +9 more
wiley   +1 more source

Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India

BMC Neurology
Background/Objectives Frontotemporal Dementia (FTD) is one of the common causes of early-onset degenerative dementia and is a clinically and pathologically heterogeneous group of neurodegenerative disorders.
Subasree Ramakrishnan, Faheem Arshad, B. S. Keerthana, Susan Bosco, Arun Gokul Pon, V. H. Ganaraja, Deekshitha Madhusudhan, R. Mahima, Gautham Arunachal, Karthick Kulanthaivelu, Suvarna Alladi   +10 more
doaj   +1 more source

Very late-onset behavioral variant frontotemporal dementia

Dementia & Neuropsychologia
Current concepts regarding frontotemporal lobar degeneration (FTLD) have evolved rapidly in recent years. Genetically determined FTLD cohorts have broadened our knowledge pertaining to its clinical presentation, neuroimaging findings and demographics. In
Henrique Cerqueira Guimarães, Tatiana de Carvalho Espindola   +1 more
doaj   +1 more source

A gamified Faux Pas Test: Comparing psychometric properties to the pen‐and‐paper version in a Dutch population

Journal of Neuropsychology, EarlyView.
Abstract Psychometric properties of Tommy's Quest (TQ), a novel serious game to evaluate Theory of Mind (ToM) and the pen‐and‐paper Faux Pas Test (FPT) were assessed. Results from 67 cognitively unimpaired individuals indicated that TQ had adequate construct validity, internal consistency and test–retest reliability.
Jackie M. Poos, Indy Zinzen, Max Kalisvaart, Linde Assendelft, Karla Marticic Giljevic, Marit Ruitenberg, Rafael Bidarra, Esther van den Berg   +7 more
wiley   +1 more source

Progress on frontotemporal dementia

Chinese Journal of Contemporary Neurology and Neurosurgery
Frontotemporal dementia (FTD) is the second most common type of early-onset dementia after Alzheimer's disease (AD), severely impairing patients' quality of life and increasing the burden of family care.
XU Yu-xuan, NAN Hai-tian, CHU Min, WU Li-yong   +3 more
doaj   +1 more source

Item‐level accuracy and error patterns of the TIE‐93: Emotion recognition in individualistic and collectivistic cultural groups

Journal of Neuropsychology, EarlyView.
Abstract There remains a lack of appropriately adapted neuropsychological tests for culturally, linguistically and educationally diverse populations, particularly for the evaluation of social cognition, as its assessment is essential for the early diagnosis of diseases such as frontotemporal dementia and Alzheimer's disease.
Renelle Bourdage, Sanne Franzen, Didier Maillet, Catherine Belin, Janne Papma, Pauline Narme   +5 more
wiley   +1 more source