Publications by authors named "J H Veldink"
Progressive loss of motor neurons is the hallmark of the neurodegenerative disease amyotrophic lateral sclerosis (ALS), but the underlying disease mechanisms remain incompletely understood. In this study, we investigate the effects of C21ORF2 mutations, a gene recently linked to ALS, and find that primary cilia are dysfunctional. Human patient-derived mutant C21ORF2 motor neurons have a reduced ciliary frequency and length.
View Article and Find Full Text PDFBackground: Primary lateral sclerosis (PLS) is a rare motor neuron disease characterized by upper motor neuron degeneration, diagnosed clinically due to the absence of a (neuropathological) gold standard. Post-mortem studies, particularly TDP-43 pathology analysis, are limited.
Methods: This study reports on 5 cases in which the diagnostic criteria for PLS were met, but in which neuropathology findings showed (partially) conflicting results.
Sex is an important covariate in all genetic and epigenetic research due to its role in the incidence, progression and outcome of many phenotypic characteristics and human diseases. Amyotrophic lateral sclerosis (ALS) is a motor neuron disease with a sex bias towards higher incidence in males. Here, we report for the first time a blood-based epigenome-wide association study meta-analysis in 9274 individuals after stringent quality control (5529 males and 3975 females).
View Article and Find Full Text PDFArticle Synopsis
- The study focused on asymptomatic C9orf72 mutation carriers, identifying individuals who may develop ALS or frontotemporal dementia (FTD) in the future.
- Researchers enrolled various groups, including asymptomatic family members with the mutation, non-carriers, and population controls, using advanced MRI techniques to track brain changes over time.
- Results showed significant brain atrophy in certain areas up to six years before symptoms appeared, suggesting that imaging measures could help predict who is at risk for developing these neurological disorders.
Article Synopsis
- Repeat expansions in the C9orf72 gene are a leading genetic cause of ALS and frontotemporal dementia, but understanding how this mutation causes neuron death is still unclear, complicating the search for effective therapies.
- Researchers analyzed data from over 41,000 ALS and healthy samples to identify potential treatments, discovering that acamprosate, a drug used for other conditions, might be repurposed for C9orf72-related diseases.
- Their findings demonstrated that acamprosate has neuroprotective properties in cell models and works similarly well as the current treatment, riluzole, showing the potential of using genomic data to find new drug applications.