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Related Concept Videos

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...
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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...
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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.
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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...
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Related Experiment Video

Updated: Jun 4, 2026

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

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Published on: March 21, 2020

PLA2G6 variant in Parkinson's disease.

Hiroyuki Tomiyama1, Hiroyo Yoshino, Kotaro Ogaki

  • 1Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.

Journal of Human Genetics
|March 4, 2011
PubMed
Summary

The PLA2G6 p.P806R mutation is not associated with Parkinson's disease (PD) in the Japanese population. Further research is needed to understand PLA2G6's role in PD across diverse ethnicities.

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Last Updated: Jun 4, 2026

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

Published on: December 14, 2017

Area of Science:

  • Neurogenetics
  • Molecular Biology
  • Human Genetics

Background:

  • Phospholipase A2 group VI (PLA2G6) gene mutations are linked to early-onset dystonia-parkinsonism (PARK14).
  • A prior study suggested a heterozygous PLA2G6 p.P806R mutation might be associated with Parkinson's disease (PD).

Purpose of the Study:

  • To investigate the association of the PLA2G6 p.P806R mutation with sporadic Parkinson's disease (PD) in the Japanese population.
  • To identify other potential PLA2G6 variants in Japanese PD patients.

Main Methods:

  • Direct sequencing of PLA2G6 exon 17 in 379 Japanese PD patients and 310 controls.
  • Direct sequencing of all PLA2G6 exons and exon-intron boundaries in 116 Japanese PD patients.

Main Results:

  • The heterozygous PLA2G6 p.P806R mutation was found in 3.16% of PD patients and 3.23% of controls, showing no significant association (P=0.96).
  • Two novel heterozygous variants, p.R301C and p.D331N, were identified in single PD patients, with unclear clinical significance.
  • PLA2G6 mutations are unlikely to be major causes or risk factors for PD in Asian populations.

Conclusions:

  • The PLA2G6 p.P806R mutation is not a risk factor for Parkinson's disease in the Japanese population.
  • PLA2G6 mutations are generally not considered major contributors to PD in Asian populations.
  • Further large-scale, multi-ethnic studies are necessary due to potential heterogeneity in PLA2G6-related neurological disorders.