Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism.

European journal of neurology(2023)

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摘要
Retrospective analysis allowed us to refine our indication criteria: (i) North African ancestry, (ii) an age at onset <40 years 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 parkinsonism cases with a family history, especially for patients with dementia with Lewy bodies or a multiple-system-atrophy-like phenotype.
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关键词
Mendelian transmission,Parkinson's disease,dementia with Lewy bodies,genetic testing,multiple system atrophy
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