SCIENTIFIC HUB

Follow the evidence.

SCIENTIFIC LITERATURE · MED

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

NPJ Parkinsons Dis · 2022-11-04

DOI: 10.1038/s41531-022-00408-6PMID: 36333361

Open accessresearch-article; Journal ArticleOriginal source ↗

Research overview

The text below is the source article’s original abstract under a verified reuse license. cc by

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.

Scientific assessment

01

Research question

Assess the question within the original study’s scope.

02

Methods & sample

Check the source article for study design and sample details.

03

Key findings

An editorially approved findings summary is not yet published for this record.

04

Limitations

Generalizability, bias and clinical meaning require separate assessment.

Methods, samples and clinical conclusions are not inferred from bibliographic metadata.