Christina Fevga
A5067899508- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Neurological diseases and metabolism
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Genomics and Rare Diseases
- RNA and protein synthesis mechanisms
- Nuclear Receptors and Signaling
- RNA Research and Splicing
- Cellular transport and secretion
- Hereditary Neurological Disorders
Erasmus MC
2020-2023
Objective The study was undertaken to identify a monogenic cause of early onset, generalized dystonia. Methods consisted genome‐wide linkage analysis, exome and Sanger sequencing, clinical neurological examination, brain magnetic resonance imaging, protein expression studies in skin fibroblasts from patients. Results We identified heterozygous variant, c.388G>A, p.Gly130Arg, the eukaryotic translation initiation factor 2 alpha kinase ( EIF2AK2 ) gene, segregating with onset isolated...
Missense variants and multiplications of the alpha-synuclein gene (SNCA) are established as rare causes autosomal dominant forms Parkinson's Disease (PD).Two families Turkish origins with PD were studied; SNCA coding region was analyzed by Sanger sequencing, whole exome sequencing (WES) in index patient first second family, respectively. Co-segregation studies haplotype analysis across locus carried out. Functional included vitro thioflavin-T aggregation assay silico structural modelling...
Abstract The protein phosphatase 2A complex (PP2A), the major Ser/Thr in brain, is involved a number of signalling pathways and functions, including regulation crucial proteins for neurodegeneration, such as alpha-synuclein, tau LRRK2. Here, we report identification variants PTPA/PPP2R4 gene, encoding PP2A activator, two families with early-onset parkinsonism intellectual disability. We carried out clinical studies genetic analyses, genome-wide linkage analysis, whole-exome sequencing,...
Multiple system atrophy is considered a sporadic disease, but neuropathologically confirmed cases with family history of parkinsonism have been occasionally described. Here we report North-Bavarian (colloquially, Lion's tail region) six-generation pedigree, including multiple and Parkinson's disease dementia. Between 2012 2020, examined all living consenting members age calculated the risk prodromal in those without overt parkinsonism. The index case one paternal cousin dementia died at...
Several studies have analyzed gene expression profiles in the substantia nigra to better understand pathological mechanisms causing Parkinson's disease (PD). However, concordance between identified signatures these individual was generally low. This might been caused by a change cell type composition as loss of dopaminergic neurons pars compacta is hallmark PD. Through an extensive meta-analysis nine previously published microarray studies, we demonstrated that big proportion detected...