Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
retrospective_cohort · Level III
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- Record sourced from PubMed, PMID 33045815.
- Also identified by DOI 10.1002/ana.25787 and PMC identifier 8944279.
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Abstract
Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1,587 cases. Mutations were found in 14.1% of patients; 27.6% were familial and 8% were isolated. PRKN was the gene most frequently mutated in Caucasians, whereas PINK1 mutations predominated in Arab-Berber individuals. Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa-induced motor complications, dysautonomia, and dementia than those without mutations. ANN NEUROL 2020;88:843-850.
Medical subject headings
- Parkinson Disease
- Protein Deglycase DJ-1
- Protein Kinases
- Ubiquitin-Protein Ligases