Publications by authors named "Nadine Loefflad"
Glucocerebrosidase (GBA1) variants constitute numerically the most common known genetic risk factor for Parkinson's disease (PD) and are distributed worldwide. Access to GBA1 genotyping varies across the world and even regionally within countries. Guidelines for GBA1 variant counseling are evolving.
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- GBA1 gene variants are linked to Gaucher disease and increase the risk for Parkinson's disease, but not all carriers develop PD, making it important to identify higher-risk individuals.
- The study compared motor and non-motor symptoms in GBA1 variant carriers and non-carriers using standardized assessments and included data from additional cohorts.
- Results showed GBA1-positive Parkinson's patients had worse cognitive and olfactory performance, while no significant differences were found between non-affected GBA1 carriers and controls, pointing to a distinct phenotype in GBA1-positive PD without confirming earlier reports of prodromal PD signs in carriers.
Objective: The incidence of epilepsy increases with age. With current demographic trends, this presents a healthcare challenge. We investigated the clinical spectrum of first seizures, evaluated neuroimaging and EEG findings, and determined clinical outcomes, including anti-seizure medication (ASM) response in older people.
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