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Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
Department of Genetics and Genomics, Rajendra Institute of Medical Sciences, Ranchi, Jharkhand, India.
Background: Stroke, a cerebrovascular condition, and neurodegenerative diseases (ND) like Dementia, Multiple sclerosis, Parkinson's Disease, Amyotrophic Lateral Sclerosis are major types of neurological disorders, which are associated with increasing global morbidity and mortality burden. But to what extent shared genetic architecture is involved between stroke and ND is unknown.
Method: We investigated shared genetics between stroke (10 subtypes) and ND (6 diseases) using large scale Genome-Wide Association Study (GWAS) summary statistics data for Cross-Ancestry, European and South Asian samples including Indians.
Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
Penn Neurodegeneration Genomics Center, Dept of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Background: NIAGADS is a national data repository that offers qualified investigators access to genomic data for Alzheimer's disease (AD) and related dementia. In addition, NIAGADS has made substantial effort to curate, harmonize, standardize, and disseminate AD-relevant variant, gene, and sequence annotations from publications, functional genomics datasets, and summary statistics deposited at NIAGADS. These results are made available to the public in a collection of interactive knowledgebases (AD Variant Portal, FILER Functional Genomics Repository, VariXam, Alzheimer's GenomicsDB & Genome Browser), all of which are accessible programmatically via the NIAGADS API.
View Article and Find Full Text PDFBackground: Changes in speech and language functions have shown to be early symptoms of AD pathology. Recent developments in automatic speech and language processing have opened avenues for objective assessments of these changes. The primary objective of this study is to explore whether speech and language markers extracted from cognitive testing conducted during an automated phone call differ according to underlying AD pathology as measured in cerebrospinal fluid (CSF) in preclinical or early stage individuals.
View Article and Find Full Text PDFClinical Manifestations.
Alzheimers Dement
December 2024
Massachusetts General Hospital, Boston, MA, USA.
Background: PET quantifies tau and amyloid-ß (Aß) pathology in preclinical AD. A 2-min digital clock-drawing test (DCTclock ) captures clock-drawing outcomes and processes, potentially more sensitive to cognitive deficits in preclinical AD than pencil-and-paper tests. The DCTclock summary score comprised subscores targeting multi-domain cognitive performance (i.
View Article and Find Full Text PDFConstruct Validity, Criterion Validity, and Internal Consistency of GOT-Cog©, a Novel Occupational Therapy Cognitive Screen.
Am J Occup Ther
January 2025
Henry C. Hrdlicka, PhD, is Director of Research, Milne Institute for Healthcare Innovation, Gaylord Specialty Healthcare, Wallingford, CT;
Importance: No single cognitive screen adequately captures the cognitive domains needed for inpatient occupational therapy treatment planning.
Objective: To assess the construct validity of the Gaylord Occupational Therapy Cognitive (GOT-Cog©) screen, a novel comprehensive cognitive screen that evaluates functional cognition.
Design: Randomized crossover controlled study design using the St.
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