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Parkinson Disease l: Introduction

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 Disease ll: Pathophysiology

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's Disease: Overview

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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...

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 its...

Huntington Disease l: Introduction

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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 reduced penetrance,...

Pedigree Analysis

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Related Experiment Video

Updated: May 26, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Autosomal dominant Parkinson's disease.

Christina Sundal¹, Shinsuke Fujioka, Ryan J Uitti

¹Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

Parkinsonism & Related Disorders

|December 15, 2011

Summary

Genetic research has transformed Parkinson

Area of Science:

Neuroscience
Genetics
Neurology

Background:

Parkinson's disease (PD) understanding has been revolutionized by genetic research over the past two decades.
Sixteen PARK loci identified, including autosomal dominant (SNCA, LRRK2) and recessive (PRKN, DJ-1, PINK1) genes.
LRRK2 is the most prevalent gene associated with PD, and susceptibility variants are recognized risk factors in specific populations.

Purpose of the Study:

To review the impact of genetic discoveries on Parkinson's disease classification and understanding.
To highlight recent findings in autosomal dominant PD genes, EIF4G1 and VPS35.
To discuss the implications of genetic findings for the etiology and potential targeted therapies for PD.

Main Methods:

Review of genetic research and identified PARK loci.

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

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

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Last Updated: May 26, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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

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

Published on: December 14, 2017

Analysis of gene prevalence and association with specific pathologies like alpha-synuclein Lewy body (LB) pathology.

Discussion of newly discovered autosomal dominant PD genes and their pathological implications.

Main Results:

Identification of sixteen PARK loci, with LRRK2 being the most prevalent.
SNCA and LRRK2 gene carriers predominantly exhibit alpha-synuclein Lewy body pathology.
Discovery of two new autosomal dominant PD genes: EIF4G1 (associated with LB pathology) and VPS35 (pathology requires further investigation).

Conclusions:

Genetic studies, particularly on autosomal dominant PD, offer significant insights into the disease's potential etiology.
Further research is needed to elucidate the pathology associated with VPS35 gene mutations.
Genetic discoveries pave the way for developing targeted therapies for Parkinson's disease prevention and cure.