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A dataset profiling the multiomic landscape of the prefrontal cortex in amyotrophic lateral sclerosis.
Gigascience
January 2024
Technical University of Munich, School of Medicine, rechts der Isar Hospital, Clinical Department of Neurology, Munich 81675, Germany.
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease, which still lacks effective disease-modifying therapies. Similar to other neurodegenerative disorders, such as Alzheimer and Parkinson disease, ALS pathology is presumed to propagate over time, originating from the motor cortex and spreading to other cortical regions. Exploring early disease stages is crucial to understand the causative molecular changes underlying the pathology.
View Article and Find Full Text PDFObjective: This article provides an overview of the current understanding of the genetic and pathologic features of neurodegenerative dementias, with an emphasis on Alzheimer disease and related dementias.
Latest Developments: In recent years, there has been substantial progress in genetic research, contributing significant knowledge to our understanding of the molecular risk factors involved in neurodegenerative dementia syndromes. Several genes have been linked to monogenic forms of dementia (eg, APP, PSEN1, PSEN2, SNCA, GRN, C9orf72, MAPT) and an even larger number of genetic variants are known to influence susceptibility for developing dementia.
Article Synopsis
- - The article outlines frontotemporal dementia (FTD) by focusing on three core syndromes: behavioral variant FTD and two types of progressive aphasia (nonfluent and semantic variants), which are linked to specific protein abnormalities in the brain.
- - It highlights that FTD is more heritable than Alzheimer's and indicates genetic variations, such as in C9orf72 and MAPT, are found in over 10% of cases, which help understand its pathology through clinical presentations and imaging.
- - Although there are no FDA-approved treatments for FTD yet, ongoing clinical trials aim to find disease-modifying therapies, while current management strategies address behavioral and language issues through non-drug methods or off-label medication use. *
Elevated Cerebrospinal Fluid Ubiquitin Carboxyl-Terminal Hydrolase Isozyme L1 in Asymptomatic C9orf72 Hexanucleotide Repeat Expansion Carriers.
Ann Neurol
November 2024
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Article Synopsis
- The study aims to identify biochemical markers in individuals at risk of developing ALS or FTD due to the C9orf72 hexanucleotide repeat expansion (HRE).
- Researchers compared levels of specific cerebrospinal fluid biomarkers in 48 asymptomatic C9orf72 HRE carriers, 39 controls, and various patient groups, finding increased levels of ubiquitin carboxyl-hydrolase isozyme L1 in carriers versus controls.
- These elevated levels suggest early biochemical changes in C9orf72 HRE carriers that might be linked to disease mechanisms, enhancing understanding of disease progression and prevention strategies.
How the prospect of a clinical trial impacts decision-making for predictive genetic testing in ALS.
Amyotroph Lateral Scler Frontotemporal Degener
November 2024
Montreal Neurological Institute-Hospital, Department of Neurology & Neurosurgery, McGill University, Montreal, Canada.
Genetic testing practices are rapidly evolving for people living with, or at-risk for, amyotrophic lateral sclerosis (ALS), due to emerging genotype-driven therapies. This study explored how individuals at-risk for familial ALS (fALS) perceive the opportunity to participate in a clinical trial, and to better understand how that may influence the decision-making process for predictive genetic testing. This study used both quantitative and qualitative data analyses.
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