ReviewFrontiers in neurology2021
Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.
Review in Frontiers in neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
40 citing papers in PubMed, 59 citations in OpenAlex.
- Strategies for Optimizing Genetic Mouse Models to Enhance the Understanding of Parkinson's Disease.Biomedicines · 2026Review
- Bridging global diversity gaps in Parkinson disease research.Nature reviews. Neurology · 2026Review
- Accurate proteome-wide prediction of enzymes and catalytic sites using graph deep learning and protein language model.GigaScience · 2026Article
- The Influence of Genetics in the Early Development of Axial Postural Abnormalities in Parkinson's Disease.Movement disorders clinical practice · 2026Article
- Genetically encoded and modular subcellular organelle probes reveal dysfunction in lysosomes and mitochondria driven by PRKN knockout.iScience · 2025Article
- Genetically Encoded and Modular SubCellular Organelle Probes (GEM-SCOPe) reveal lysosomal and mitochondrial dysfunction driven bybioRxiv : the preprint server for biology · 2025Article
- Article
- Next Generation Sequencing Analysis in Patients Affected by Parkinson's Disease and Correlation Between Genotype and Phenotype in Selected Clinical Cases.International journal of molecular sciences · 2025Article
- GABAergic neurons are a key cell type in aFrontiers in neuroscience · 2025Article
- The Role of ETNPPL in Dopaminergic Neuron Stability: Insights from Neuromelanin-Associated Protein Expression in Parkinson's Disease.International journal of molecular sciences · 2024Article
- Unraveling Dysregulated Cell Signaling Pathways, Genetic and Epigenetic Mysteries of Parkinson's Disease.Molecular neurobiology · 2024Review
- FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.Genes · 2024Review
- Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach.International journal of molecular sciences · 2024Article
- Towards a Global View of Parkinson's Disease Genetics.Annals of neurology · 2024Review
- X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review.Movement disorders clinical practice · 2024Review
- Neurocognitive Impairment and Social Cognition in Parkinson's Disease Patients.Neurology international · 2024Review
- Genotype-phenotype correlation in PRKN-associated Parkinson's disease.NPJ Parkinson's disease · 2024Article
- Sortilin Expression Levels and Peripheral Immunity: A Potential Biomarker for Segregation between Parkinson's Disease Patients and Healthy Controls.International journal of molecular sciences · 2024Article
- Case report: Early-onset Parkinson's disease with lower limb spasticity in a new DJ-1/PARK7 patient.Frontiers in neuroscience · 2024Article
- Early Levodopa-Induced Motor Complications in RAB39B X-Linked Parkinsonism.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Parkinson disease (PD) is a complex neurodegenerative disorder, usually with multifactorial etiology. It is characterized by prominent movement disorders and non-motor symptoms. Movement disorders commonly include bradykinesia, rigidity, and resting tremor. Non-motor symptoms can include behavior disorders, sleep disturbances, hyposmia, cognitive impairment, and depression. A fraction of PD cases instead is due to Parkinsonian conditions with Mendelian inheritance. The study of the genetic causes of these phenotypes has shed light onto common pathogenetic mechanisms underlying Parkinsonian conditions. Monogenic Parkinsonisms can present autosomal dominant, autosomal recessive, or even X-linked inheritance patterns. Clinical presentations vary from forms indistinguishable from idiopathic PD to severe childhood-onset conditions with other neurological signs. We provided a comprehensive description of each condition, discussing current knowledge on genotype-phenotype correlations. Despite the broad clinical spectrum and the many genes involved, the phenotype appears to be related to the disrupted cell function and inheritance pattern, and several assumptions about genotype-phenotype correlations can be made. The interest in these assumptions is not merely speculative, in the light of novel promising targeted therapies currently under development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.