Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

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.

• Authors: Suzanne Lesage, Ariane Lunati, Marion Houot, Sawssan Ben Romdhan, Fabienne Clot, Christelle Tesson, Graziella Mangone, Benjamin Le Toullec, Thomas Courtin, Kathy Larcher, Mustapha Benmahdjoub, Mohamed Arezki, Ahmed Bouhouche, Mathieu Anheim, Emmanuel Roze, François Viallet, François Tison, Emmanuel Broussolle, Murat Emre, Hasmet Hanagasi, Basar Bilgic, Meriem Tazir, Mouna Ben Djebara, Riadh Gouider, Christine Tranchant, Marie Vidailhet, Eric Le Guern, Olga Corti, Chokri Mhiri, Ebba Lohmann, Andrew Singleton, Jean-Christophe Corvol, Alexis Brice, French Parkinson Disease Genetics Study Group
• Journal: Annals of neurology (Ann Neurol) Vol. 88 Issue 4 Pg. 843-850 (10 2020) ISSN: 1531-8249 [Electronic] United States
• PMID: 33045815 (Publication Type: Journal Article, Multicenter Study, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't)
• Copyright: © 2020 American Neurological Association.

Chemical References

• Ubiquitin-Protein Ligases
• parkin protein
• Protein Kinases
• PTEN-induced putative kinase
• PARK7 protein, human
• Protein Deglycase DJ-1

Topics

• Adolescent
• Adult
• Aged
• Aged, 80 and over
• Child
• DNA Mutational Analysis
• Female
• Genes, Recessive (genetics)
• Genetic Predisposition to Disease (genetics)
• Humans
• Male
• Middle Aged
• Mutation
• Parkinson Disease (genetics)
• Protein Deglycase DJ-1 (genetics)
• Protein Kinases (genetics)
• Ubiquitin-Protein Ligases (genetics)
• Young Adult