Screening for Fabry disease in a series of Parkinson's disease patients and literature review.
Sandra PerilloGianluigi Rosario PalmieriMaria Olmedillas Del MoralGiovanna De MicheleAugusta GiglioNunzia CuomoChiara PanePeter BauerGiuseppe De MicheleAnna De RosaPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2022)
The few studies reviewed are heterogeneous, and the results are controversial. An unknown significance variant in GLA gene was detected in PD patients in one large study, whereas decreased α-GAL activity was observed in PD subjects in two other researches, but without confirmation by lyso-Gb3 assessment or genetic analysis. Vascular parkinsonism was associated to FD in five case reports. We found no association between PD and FD in our population. However, it is not possible to draw definitive conclusions due to limited sample size. Furthermore, controls would have been missing in case of a positive finding.
Keyphrases
- end stage renal disease
- ejection fraction
- chronic kidney disease
- newly diagnosed
- peritoneal dialysis
- prognostic factors
- squamous cell carcinoma
- gene expression
- copy number
- radiation therapy
- dna methylation
- transcription factor
- hypertrophic cardiomyopathy
- drug induced
- replacement therapy
- locally advanced
- case control