An ANXA11 P93S variant dysregulates TDP‐43 and causes corticobasal syndrome

by Clinical Neuropsychologist | Wednesday, June 26, 2024 | Dementia

Abstract INTRODUCTION Variants of uncertain significance (VUS) surged with affordable genetic testing, posing challenges for determining pathogenicity. We examine the pathogenicity of a novel VUS P93S in Annexin A11 (ANXA11) – an amyotrophic lateral...

Prediction of Alzheimer’s disease progression within 6 years using speech: A novel approach leveraging language models

by Clinical Neuropsychologist | Tuesday, June 25, 2024 | Dementia

Abstract INTRODUCTION Identification of individuals with mild cognitive impairment (MCI) who are at risk of developing Alzheimer’s disease (AD) is crucial for early intervention and selection of clinical trials. METHODS We applied natural language processing...

Cerebrospinal fluid p‐tau181, 217, and 231 in definite Creutzfeldt–Jakob disease with and without concomitant pathologies

by Clinical Neuropsychologist | Tuesday, June 25, 2024 | Dementia

Abstract INTRODUCTION The established cerebrospinal fluid (CSF) phosphorylated tau181 (p-tau181) may not reliably reflect concomitant Alzheimer’s disease (AD) and primary age-related tauopathy (PART) found in Creutzfeldt–Jakob disease (CJD) at autopsy. METHODS...

Correction to “CALHM2 V136G polymorphism reduces astrocytic ATP release and is associated with depressive symptoms and Alzheimer’s disease risk”

by Clinical Neuropsychologist | Monday, June 24, 2024 | Dementia

Alzheimer’s &Dementia, EarlyView. If you do not see content above, kindly GO TO SOURCE. Not all publishers encode content in a way that enables republishing at Neuro.vip. This post is Copyright: | June 24, 2024 Wiley: Alzheimer’s & Dementia: Table...

In vivo detection of Alzheimer’s and Lewy body disease concurrence: Clinical implications and future perspectives

by Clinical Neuropsychologist | Saturday, June 22, 2024 | Dementia

Abstract INTRODUCTION The recent introduction of seed amplification assays (SAAs) detecting misfolded α-synuclein, a pathology-specific marker for Lewy body disease (LBD), has allowed the in vivo identification and phenotypic characterization of patients with...

Assessing the lack of diversity in genetics research across neurodegenerative diseases: A systematic review of the GWAS Catalog and literature

by Clinical Neuropsychologist | Saturday, June 22, 2024 | Dementia

Abstract The under-representation of non-European cohorts in neurodegenerative disease genome-wide association studies (GWAS) hampers precision medicine efforts. Despite the inherent genetic and phenotypic diversity in these diseases, GWAS research consistently...