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A multicenter study of genetic testing for Parkinson's disease in the clinical setting.

Anja KovandaValentino RačkiGaber BergantDejan GeorgievDušan FlisarEliša PapićMarija BrankovicMilena JankovicMarina SvetelNataša TeranAles MaverVladimir S KosticIvana NovakovicZvezdan PirtošekMartin RakušaVladimira VuletićBorut Peterlin
Published in: NPJ Parkinson's disease (2022)
Parkinson's disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter cohort of 149 early-onset and familial patients by exome sequencing and semi-quantitative multiplex ligation-dependent probe amplification of evidence-based PD-associated gene panel. We show that genetic testing for PD should be considered for both early-onset and familial patients alike, and a clinical yield of about 10% in the Caucasian population can be expected.
Keyphrases
  • early onset
  • late onset
  • end stage renal disease
  • ejection fraction
  • chronic kidney disease
  • prognostic factors
  • copy number
  • clinical trial
  • high resolution
  • high throughput
  • transcription factor
  • single molecule