Characterization of recessive Parkinson's disease in a large multicenter study.
Suzanne LesageAriane LunatiMarion HouotSawssan Ben RomdhanFabienne ClotChristelle TessonGraziella MangoneBenjamin Le ToullecThomas CourtinKathy LarcherMustapha BenmahdjoubMohammed ArezkiAhmed BouhoucheMathieu AnheimEmmanuel RozeFrançois VialletFrançois TisonEmmanuel BroussolleMurat EmreHasmet HanagasiBasar BilgicMeriem TazirMouna Ben DjebaraRiadh GouiderChristine TranchantMarie VidailhetEric Le GuernOlga CortiChokri MhiriEbba LohmannAndrew SingletonJean-Christophe CorvolAlexis Bricenull nullPublished in: Annals of neurology (2020)
Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson's disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1587 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. This article is protected by copyright. All rights reserved.
Keyphrases
- clinical trial
- genome wide
- copy number
- end stage renal disease
- newly diagnosed
- chronic kidney disease
- randomized controlled trial
- parkinson disease
- dna methylation
- mild cognitive impairment
- risk factors
- early onset
- drug delivery
- high glucose
- open label
- deep brain stimulation
- endothelial cells
- transcription factor
- cancer therapy
- intellectual disability
- phase ii
- duchenne muscular dystrophy
- genome wide identification
- wild type