About this Research Topic
With the diffusion of cost-effective genetic analyses, we have reached an increase in the spectrum of reported genetic variants associated with idiopathic Parkinson’s disease (e.g., GBA) as well as with monogenic parkinsonisms (dominant, recessive, and atypical forms). This increased amount of variants also disclosed a huge overlap between conditions that were traditionally considered as belonging to a given phenotypic entity, ushering the era of precision medicine for movement disorders. For instance, patients with GBA-associated parkinsonism may exhibit cognitive impairment and early disease onset, LRRK2-associated parkinsonism might present with tremor-dominant or akinetic-rigid parkinsonism, with variable disease severity, the spectrum of ATP1A3 mutations ranges from early-onset parkinsonism to hereditary spastic paraplegia. For other rare conditions as VPS35 and EIF4G1, our knowledge is still limited. Genotype-phenotype studies in genetic parkinsonian conditions may help not only in the earlier identification and treatment of these disorders but also in the development of disease-modifying treatments based on precision medicine strategies.
Therefore the goal of this Research Topic is to explore the effect of the genotype-phenotype correlations on the clinical evaluation and treatment of genetic parkinsonian conditions. Disease-modifying studies in genetic parkinsonian conditions, based on precision medicine strategies are the natural consequences of this approach. The Research Topic is focused on genetic parkinsonian conditions including, but not limited to, the following variants: GBA, SNCA, LRRK2, PRKN, PARK3, UCHL1, PINK1, DJ-1, ATP13A2, PARK10, GIGYF2, PARK12, HTRA2, PLA2G6, FBXO7, PARK16, VPS35, EIF4G1, DNAJC6, SYNJ1, TMEM 230, CHCHD2, 22q11.2 deletion syndrome (“DiGeorge”), VPS13C, PODXL, and PTRHD1. We aim to provide an inclusive overview of genetic variants associated with parkinsonian conditions by clarifying the different demographic and clinical (unexpected) presentations, as well as the detailed data at the genotypic level.
The goal of this Research Topic is to identify individuals with genetic parkinsonian conditions, to evaluate disease manifestations for an accurate clinical diagnosis, and to investigate the underlying molecular pathological mechanisms for possible disease-modifying treatments. The detailed description of the genotype-phenotype relationship in genetic parkinsonian conditions can help with everything from genetic counseling, therapeutic strategies, future clinical trials, as well as basic and clinical research studies.
In this Research Topic, we aim to extensively explore the genotype-phenotype correlation of parkinsonian conditions, and welcome the submission of Original Research, Systematic Reviews, Meta-Analyses, and Brief Research Reports on the following topics:
• Investigation of motor and non-motor symptoms in genetic parkinsonism;
• Genetic epidemiology studies;
• Genome-wide association studies (GWAS) for idiopathic Parkinson’s disease;
• Case-control genetic association studies;
• Examination of the association of specific conditions (e.g., cancer, autoimmune, or other chronic diseases) with genetic parkinsonism;
• Observational cohorts and cross-sectional genetic studies;
• Animal models developed to test specific variant associated with genetic parkinsonism;
• Disease mechanisms.
Keywords: Genetic Parkinsonism, LRRK2, GBA, Genotype-phenotype correlation, Whole Exome Sequencing
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