Results 91 to 100 of about 13,616,034 (391)

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source

The need of neuropsychological assessment in daily care of patients without dementia

Aktualności Neurologiczne, 2016
Aim of the study: The prevalence of cognitive impairment increases with age and features lesions observed in Alzheimer’s disease, vascular dementia, Parkinson’s disease and dementia with Lewy bodies.
Krzysztof Pękala, Anna Bogaczewicz, Radosław Magierski, Joanna Magierska, Tomasz Sobów   +4 more
doaj   +1 more source

Early and Differential Diagnosis of Dementia and Mild Cognitive Impairment Design and Cohort Baseline Characteristics of the German Dementia Competence Network [PDF]

, 2009
Background: The German Dementia Competence Network (DCN) has established procedures for standardized multicenter acquisition of clinical, biological and imaging data, for centralized data management, and for the evaluation of new treatments.
Frölich, Lutz, Gertz, Hermann-Josef, Hampel, Harald, Henn, Fritz, Heuser, Isabella, Huell, Michael, Jahn, Holger, Jessen, Frank, Kornhuber, Johannes, Luckhaus, Christian, Maier, Wolfgang, Pantel, Johannes, Perneczky, Robert, Peters, Oliver, Rienhoff, Otto, Ruüther, Eckart, Schmidtke, Klaus, Schroeder, Johannes, Seuchter, Susanne A., Weih, Markus, Wiltfang, Jens, Wolf, Stefanie   +21 more
core   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

NeuropsychBrainAge: A biomarker for conversion from mild cognitive impairment to Alzheimer's disease

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2023
INTRODUCTION BrainAge models based on neuroimaging data have diagnostic classification power but have replicability issues due to site and patient variability.
Jorge Garcia Condado, Jesus M. Cortes, for the Alzheimer's Disease Neuroimaging Initiative   +2 more
doaj   +1 more source

Investigating the 'latent' deficit hypothesis : age at time of head injury, executive and implicit functions and behavioral insight [PDF]

, 2010
This study investigated the 'latent deficit' hypothesis in two groups of frontotemporal headinjured patients, those injured prior to steep morphological and corresponding functional maturational periods for frontotemporal networks (≤ age 25), and those ...
Andrade, Jackie, Barker, Lynne, Bowles, David, Morton, Nicholas, Romanowski, Charles   +4 more
core   +1 more source

A web-based normative calculator for the uniform data set (UDS) neuropsychological test battery

Alzheimer's Research & Therapy, 2011
IntroductionWith the recent publication of new criteria for the diagnosis of preclinical Alzheimer's disease (AD), there is a need for neuropsychological tools that take premorbid functioning into account in order to detect subtle cognitive decline ...
S. Shirk, Meghan B. Mitchell, Lynn W. Shaughnessy, J. Sherman, J. Locascio, S. Weintraub, A. Atri   +6 more
semanticscholar   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

The hidden face of Duchenne (Neuro)Muscular Dystrophy. Preliminary evidence of social cognition impairment as a feature of the neuropsychological phenotype of DMD

Frontiers in Psychology
AimTo study unexplored neuropsychological domains in the characterization of the Central Nervous System (CNS) involvement in Duchenne Muscular Dystrophy (DMD) that could be relevant based on the recent findings about dystrophin expression in human CNS ...
S. Parravicini, S. Parravicini, C. A. Quaranta, C. A. Quaranta, M. I. Dainesi, M. I. Dainesi, A. Berardinelli   +6 more
doaj   +1 more source

Korsakoff Syndrome in Non-alcoholic Psychiatric Patients. Variable Cognitive Presentation and Impaired Frontotemporal Connectivity

Frontiers in Psychiatry, 2018
Background: Non-alcoholic Wernicke's encephalopathy and Korsakoff syndrome are greatly underdiagnosed. There are very few reported cases of neuropsychologically documented non-alcoholic Korsakoff syndrome, and diffusion tensor imaging (DTI) data are ...
Georgios Nikolakaros, Georgios Nikolakaros, Georgios Nikolakaros, Timo Kurki, Timo Kurki, Janina Paju, Sokratis G. Papageorgiou, Risto Vataja, Tuula Ilonen   +8 more
doaj   +1 more source