Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism.
E MutezM SwiderskiD DevosC MoreauG BailleA DegardinG RyckewaertN CarriereA KreislerC SimoninN RouaixM TirP KrystkowiakN RamdaneM GéninB SablonnièreL DefebvreVincent HuinPublished in: European journal of neurology (2023)
Retrospective analysis allowed us to refine our indication criteria: (i) North African ancestry, (ii) an age at onset < 40, or (iii) a familial history of parkinsonism with at least one affected first-degree relative. Our study highlights the interest of MLPA testing for other parkinsonisms cases with a family history, especially for patients with dementia with Lewy bodies or a multiple system atrophy-like phenotype.