作者
Eugenie Mutez, M Swiderski, DAVID Devos, C Moreau, G Baille, A Degardin, G Ryckewaert, N Carriere, Alexandre Kreisler, Clémence Simonin, N Rouaix, M Tir, P Krystkowiak, Nassima Ramdane, Michaël Genin, Bernard Sablonniere, L Defebvre, Vincent Huin
发表日期
2023/6
期刊
European Journal of Neurology
卷号
30
期号
6
页码范围
1667-1675
简介
Background and purpose
The monogenic forms of Parkinson's disease represent <10% of familial cases and a still lower frequency of sporadic cases. However, guidelines to orient genetic testing are lacking. The aim was to establish the interest of multiplex ligation‐dependent probe amplification (MLPA) as a primary screening test and to propose clinical criteria to guide genetic diagnostic tests for patients with suspected Mendelian Parkinson's disease.
Methods
In all, 567 patients with parkinsonism from 547 unrelated families were recruited and two MLPAs were performed for each. All pathogenic G2019S variants in the LRRK2 gene were confirmed by Sanger sequencing and the PRKN gene was screened for a second mutation in the cases of one heterozygous structural variant in the PRKN gene.
Results
The performance of MLPA was 51/567 (9%) for the entire cohort and included 27 (4.8%) LRRK2 …
学术搜索中的文章
Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism
E Mutez, M Swiderski, D Devos, C Moreau, G Baille… - European Journal of Neurology, 2023