ReviewNeuro-degenerative diseases2012
Update on genetics of parkinsonism.
Review in Neuro-degenerative diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 23 citations in OpenAlex.
- Genetic Identification Is Critical for the Diagnosis of Parkinsonism: A Chinese Pedigree with Early Onset of Parkinsonism.PloS one · 2015Article
- Iron in neurodegenerative disorders of protein misfolding: a case of prion disorders and Parkinson's disease.Antioxidants & redox signaling · 2014Review
- Ophthalmic manifestations of inherited neurodegenerative disorders.Nature reviews. Neurology · 2014Review
- New insight into neurodegeneration: the role of proteomics.Molecular neurobiology · 2014Review
- The impact of mitochondrial DNA and nuclear genes related to mitochondrial functioning on the risk of Parkinson's disease.Current genomics · 2013Article
- A strategy for the generation, characterization and distribution of animal models by The Michael J. Fox Foundation for Parkinson's Research.Disease models & mechanisms · 2013Article
- Article
- Rodent models and contemporary molecular techniques: notable feats yet incomplete explanations of Parkinson's disease pathogenesis.Molecular neurobiology · 2012Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
backgroundMajor progress in genetic studies of Parkinson's disease (PD) and parkinsonism has been achieved in the last two decades.
objectiveWe provide a brief review of the current status of PARK and non-PARK loci/genes, and discuss two new genes: eIF4G1 and VPS35.
methodsThe literature on PARK and non-PARK loci/genes was reviewed and some novel information on two new genes is provided.
resultsThere are 18 PARK loci. The symptomatic carriers of these genes usually present with parkinsonism, although additional clinical features can be seen during the course of the disease. Carriers of non-PARK loci/genes frequently present with a mixed phenotype that includes parkinsonism and additional clinical features. Carriers of the eIF4G1 and VPS35 genes present with a parkinsonian phenotype. The pathology of eIF4G1 is of the α-synuclein type; the pathology of VPS35 is unknown.
conclusionThe current genetic classification of PD/parkinsonism genes is not ideal. The pathological classification based on the accumulation of particular proteins/inclusions is also misleading since there are kindred with a single mutation but pleomorphic pathology. A better classification of neurodegenerative conditions is needed. It is hoped that the genetic studies will lead to better therapies.
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What OpenQuestion holds
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.