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Related Concept Videos

Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...
Parkinson's Disease: Treatment01:24

Parkinson's Disease: Treatment

Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of its...
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
Neural Regulation01:37

Neural Regulation

Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.

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Related Experiment Video

Updated: Jun 23, 2026

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag
08:55

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag

Published on: December 14, 2017

Phactr2 and Parkinson's disease.

Christian Wider1, Sarah J Lincoln, Michael G Heckman

  • 1Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

Neuroscience Letters
|May 12, 2009
PubMed
Summary
This summary is machine-generated.

Reanalyzing previous genome-wide association studies (GWAS) identified a significant Parkinson's disease (PD) genetic risk factor. This single nucleotide polymorphism (SNP) in the Phactr2 gene shows consistent association across multiple patient cohorts, highlighting the value of reexamining existing GWAS data for novel PD insights.

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Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation
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Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation

Published on: March 21, 2020

Related Experiment Videos

Last Updated: Jun 23, 2026

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag
08:55

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag

Published on: December 14, 2017

Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation
12:49

Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation

Published on: March 21, 2020

Area of Science:

  • Genetics
  • Neuroscience
  • Epidemiology

Background:

  • Previous genome-wide association studies (GWAS) for Parkinson's disease (PD) have yielded limited success in identifying robust genetic risk factors.
  • Replication attempts of initial PD GWAS findings have not consistently validated genetic associations.

Purpose of the Study:

  • To reevaluate data from the first Parkinson's disease GWAS to identify potential genetic risk factors.
  • To investigate the association of a specific single nucleotide polymorphism (SNP), rs11155313 in the Phactr2 gene, with Parkinson's disease risk.

Main Methods:

  • Utilized four independent case-control series to examine the nominated SNP rs11155313.
  • Performed statistical analysis to determine the association between the SNP and PD in each series and combined data.

Main Results:

  • The SNP rs11155313 demonstrated a statistically significant association with Parkinson's disease in US, Canadian, and Irish patient-control series.
  • While not significant in the Norwegian series, the combined analysis of all four series revealed a significant overall association (OR: 1.30, P<0.001).

Conclusions:

  • Reappraisal of publicly available GWAS data can effectively nominate novel genetic risk factors for Parkinson's disease.
  • The SNP rs11155313 in the Phactr2 gene represents a potential genetic risk factor for Parkinson's disease that warrants further investigation.