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Related Concept Videos

Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

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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...
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Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

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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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Parkinson's Disease: Overview01:15

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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...
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Huntington Disease l: Introduction01:21

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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Parkinson's Disease: Treatment01:24

Parkinson's Disease: Treatment

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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.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
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Related Experiment Video

Updated: May 6, 2026

Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration
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DNAJC13 mutations in Parkinson disease.

Carles Vilariño-Güell1, Alex Rajput, Austen J Milnerwood

  • 1Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 2B5, Canada.

Human Molecular Genetics
|November 13, 2013
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Summary

A novel mutation in DNAJC13 causes Parkinson disease (PD) with Lewy body pathology, impacting endosomal transport. This discovery highlights the role of endosomal dysfunction in neurodegenerative disorders.

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The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease
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Area of Science:

  • Genetics and Molecular Biology
  • Neuroscience
  • Cell Biology

Background:

  • Parkinson disease (PD) with Lewy body pathology can have a genetic basis.
  • Previous genetic causes for autosomal-dominant PD remained unidentified in some families.

Purpose of the Study:

  • To identify the genetic cause of Parkinson disease in a Saskatchewan family with autosomal-dominant inheritance and Lewy body pathology.
  • To investigate the role of the identified gene mutation in disease pathogenesis.

Main Methods:

  • Exome sequencing was performed on affected family members.
  • Genome alignment, variant annotation, and Sanger sequencing were used for mutation identification.
  • Genotyping in a large, multi-ethnic case-control series and cellular analysis were conducted.

Main Results:

  • A novel mutation (p.Asn855Ser) in the DNAJC13 gene was identified and segregated with Parkinson disease in the family.
  • This mutation was found in additional patients, including those with familial parkinsonism, and carriers shared a common haplotype and ancestry.
  • Cellular analysis revealed that the DNAJC13 mutation leads to a toxic gain-of-function, impairing endosomal transport and showing immunoreactivity in Lewy bodies.

Conclusions:

  • Mutations in DNAJC13 are a novel genetic cause of Parkinson disease with Lewy body pathology.
  • This finding underscores the importance of endosomal trafficking and receptor-sorting deficits in the pathogenesis of late-onset Parkinson disease.
  • The study expands our understanding of the molecular pathways implicated in parkinsonism, connecting synaptic function, vesicular transport, and lysosomal degradation.