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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...
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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...
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...
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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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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ATP13A2 variability in Parkinson disease.

Carles Vilariño-Güell1, Alexandra I Soto, Sarah J Lincoln

  • 1Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA.

Human Mutation
|December 17, 2008
PubMed
Summary
This summary is machine-generated.

Mutations in the ATP13A2 gene do not appear to cause familial or nonfamilial Parkinson disease (PD). Genetic variations and brain expression levels of ATP13A2 were not linked to Parkinson disease in this study.

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Area of Science:

  • Neurogenetics
  • Molecular Neurology
  • Parkinson Disease Research

Background:

  • Recessive ATP13A2 mutations cause Kufor-Rakeb syndrome.
  • Genetic variability and altered ATP13A2 expression are suggested in Parkinson disease (PD).

Purpose of the Study:

  • To investigate the role of ATP13A2 gene mutations and expression in Parkinson disease (PD).

Main Methods:

  • Sequenced ATP13A2 in familial parkinsonism cases and assessed mutation segregation.
  • Examined genetic variants and association in nonfamilial PD cases and controls.
  • Quantified ATP13A2 mRNA expression in PD and control brain tissues.

Main Results:

  • Identified 37 new ATP13A2 variants, but none segregated with familial parkinsonism.
  • Observed marginal association of four markers with nonfamilial PD before correction.
  • Found marginally decreased ATP13A2 mRNA expression in PD brains.

Conclusions:

  • ATP13A2 genetic variability does not contribute to familial parkinsonism.
  • ATP13A2 does not appear to be a significant factor in nonfamilial Parkinson disease.