Publications by authors named "Marleen Gijzen"
Article Synopsis
- - Amyotrophic lateral sclerosis (ALS) is a serious neurodegenerative disease that leads to the loss of motor neurons and can also cause cognitive and behavioral changes in about half of the cases.
- - Approximately 10-15% of ALS cases are directly linked to genetic factors, with the majority being sporadic but influenced by genetic risk.
- - Research involving whole genome sequencing of monozygotic twins discordant for ALS showed that somatic mutations and epigenetic changes may contribute to the disease, pointing to mechanisms like new mutations, DNA repair issues, and accelerated aging.
Background: Given the large genetic heterogeneity in amyotrophic lateral sclerosis (ALS), it seems likely that genetic subgroups may benefit differently from treatment. An exploratory meta-analysis identified that patients homozygous for the C-allele at SNP rs12608932, a single nucleotide polymorphism in the gene UNC13A, had a statistically significant survival benefit when treated with lithium carbonate. We aim to confirm the efficacy of lithium carbonate on the time to death or respiratory insufficiency in patients with ALS homozygous for the C-allele at SNP rs12608932 in UNC13A.
View Article and Find Full Text PDFBackground: Fraser syndrome (FS) is a autosomal recessive malformation syndrome characterised by cryptophthalmos, syndactyly and urogenital defects. FS is a genetically heterogeneous condition. Thus far, mutations in FRAS1 and FREM2 have been identified as cause of FS.
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