Genetics of Parkinson's Disease

Klein, Christine; Westenberger, Ana

doi:10.1101/cshperspect.a008888

Cited by 1,113 publications

(838 citation statements)

References 185 publications

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“…The occasional cases in the DP literature with middle age onset dementia and frank AD pathology, 5 for example, suggest early onset AD rather than DP. 5,50 Finally, although only 10% of Parkinson disease patients have a positive family history, some pathogenic mutations produce substantia nigra degeneration without synucleinopathy (e.g., LRRK, parkin), 81 which may be considered in athletes with early onset parkinsonism, substantia nigra degeneration at autopsy, and no Lewy bodies.…”

Section: Genetic Predisposition To Chronic Neurodegeneration In Profementioning

confidence: 99%

Chronic traumatic encephalopathy: A paradigm in search of evidence?

Castellani

2015

Laboratory Investigation

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Chronic traumatic encephalopathy (CTE) has been in the medical literature since the 1920s. It is characterized clinically by diverse neuropsychiatric symptoms, and pathologically by variable degrees of phosphorylated tau accumulation in the brain. The evolving paradigm for the pathogenesis of CTE suggests that concussion or subconcussion from athletic participation initiates a cascade of pathologic events, encompassing neuroinflammation and protein templating with trans-synaptic neurotoxicity. The end result is neurologic and neurobehavioral deterioration, often with self-harm. Although these concepts warrant further investigation, the available evidence permits no conclusions as regards the pathogenesis of the reported findings. Investigations into the role of premorbid or co-morbid neurodegenerative diseases has been limited to date, and in-depth genetic analyses have not been performed. The role of concussion or subconcussion if any, whether and how the condition progresses over time, the extent of phosphorylated tau in clinically normal athletes, the role of phosphorylated tau as a toxic species versus an inert disease response, and whether protein templating has any in vivo relevance remain to be elucidated.

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Section: Genetic Predisposition To Chronic Neurodegeneration In Profementioning

confidence: 99%

Chronic traumatic encephalopathy: A paradigm in search of evidence?

Castellani

2015

Laboratory Investigation

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“…In the autosomal-dominant inheritance, one mutated allele of the gene is sufficient to cause the disease [6]. The SNCA (alpha-synuclein) gene, localized in the PARK1 locus, was the first to be associated to this pattern of transmission and was identified in an Italian American family with more than 60 affected individuals distributed on five generations [7].…”

Section: Introductionmentioning

confidence: 99%

“…In these disorders, mutations in both alleles (either homozygous or compound heterozygous) cause the pathological phenotype [6]. Mutations in three genes cause the recessive typical form:…”

Section: Introductionmentioning

confidence: 99%

Genetics of Parkinson’s Disease: The Role of Copy Number Variations

Cognata¹,

D’Agata²,

Cavalcanti³

et al. 2016

Challenges in Parkinson's Disease

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Parkinson's disease (PD), the second most common progressive neurodegenerative disorder, was long believed to be a non-genetic sporadic origin syndrome. The identification of distinct genetic loci responsible for rare Mendelian forms of PD has represented a revolutionary breakthrough, allowing to discover novel mechanisms underlying this debilitating still incurable condition. Along with single-nucleotide polymorphisms (SNPs), other kinds of DNA molecular defects have emerged as significant disease-causing mutations, including large chromosomic structural rearrangements and copy number variations (CNVs). Due to their size variability and to the different sensitivity and resolution of detection methodologies, CNVs constitute a particular challenge in genetic studies and the pathogenetic or susceptibility impact of specific CNVs on PD is currently under debate. In this chapter, we will review the current literature and bioinformatic data describing the involvement of CNVs on PD pathobiology. We will discuss the recently highlighted role of PARK2 heterozygous CNVs, the possible common founder effects of PD gene rearrangements and the importance to map genetic breakpoints. We will also add a summary about the current available molecular methods and bioinformatics web resources to detect and interpret CNVs. Assessing the global genome-wide burden of large CNVs and elucidating the role of de novo rare structural variants on PD may reveal new candidate genes and consequently ameliorate diagnosis and counselling of mutations carriers.

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“…The PARK2 gene, one of the largest human genes, expresses making a protein called parkin [7]. The official name of this gene is -Parkinson protein 2, E3 ubiquitin protein ligase (parkin)‖ [7].…”

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confidence: 99%

Ayur-Informatics: Establishing an Ayurvedic Medication for Parkinsons Disorder

2017

IJACEBS

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-Parkinsonism is a degenerative disorder of the Central Nervous System affecting the aged. The receptor proteins identified PARK2 and LRRK2 are modeled by modeller software. The best models selected for each receptor are selected by Ramachandran Plot analysis. Then best model selected are docked with the phytocompounds. The phyto-compounds having the best docking score are selected as the most suitable ligand and considered for further in-vitro receptor ligand binding assay studies.

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Genetics of Parkinson's Disease

Cited by 1,113 publications

References 185 publications

Chronic traumatic encephalopathy: A paradigm in search of evidence?

Chronic traumatic encephalopathy: A paradigm in search of evidence?

Genetics of Parkinson’s Disease: The Role of Copy Number Variations

Ayur-Informatics: Establishing an Ayurvedic Medication for Parkinsons Disorder

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