Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

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...

Multiple Sclerosis l: Introduction

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...

Autism Spectrum Disorder

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.

Parkinson's Disease: Overview

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 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...

Alzheimer's Disease: Overview

Alzheimer's Disease: Overview

Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same authorSame journal

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review.

Movement disorders : official journal of the Movement Disorder Society·2026

Same author

Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives.

Cerebellum (London, England)·2026

Same author

Cerebellar cognitive-affective syndrome in Friedreich Ataxia.

Journal of neurology·2026

Same author

A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.

Cerebellum (London, England)·2026

Same author

A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-Ataxia.

Movement disorders : official journal of the Movement Disorder Society·2026

Same author

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.

BMC medicine·2026

Search research articles

Related Experiment Video

Updated: Jun 1, 2026

Visualizing the DNA Damage Response in Purkinje Cells Using Cerebellar Organotypic Cultures

Visualizing the DNA Damage Response in Purkinje Cells Using Cerebellar Organotypic Cultures

Published on: December 27, 2024

Milestones in ataxia.

Thomas Klockgether¹, Henry Paulson

¹Department of Neurology, University Hospital Bonn, Bonn, Germany. klockgether@uni-bonn.de

Movement Disorders : Official Journal of the Movement Disorder Society

|June 1, 2011

Summary

This summary is machine-generated.

Genetic and molecular research has identified over 50 ataxia disorders, revealing common disease mechanisms like protein aggregation and mitochondrial dysfunction. Effective therapies remain elusive, but new drug targets are emerging for future clinical trials.

More Related Videos

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

Published on: May 21, 2010

Related Experiment Videos

Last Updated: Jun 1, 2026

Visualizing the DNA Damage Response in Purkinje Cells Using Cerebellar Organotypic Cultures

Visualizing the DNA Damage Response in Purkinje Cells Using Cerebellar Organotypic Cultures

Published on: December 27, 2024

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

Published on: May 21, 2010

Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Significant advancements in understanding the genetic and molecular underpinnings of ataxia disorders over the past 25 years.
Identification of causative genes for major forms like spinocerebellar ataxias, ataxia telangiectasia, and Friedreich ataxia.

Observation:

Over 30 spinocerebellar ataxias and 20 recessive ataxias have had causative mutations identified.
The total number of distinct ataxia disorders now exceeds 50, with potential for nearly 100.
Common pathophysiological themes include protein aggregation, impaired protein homeostasis, ion channel dysfunction, DNA repair defects, and mitochondrial issues.

Findings:

Despite heterogeneity, recurrent molecular and cellular mechanisms are observed across various ataxia types.
Clinical phenotypes and natural history of common ataxias are increasingly well-defined through large observational studies.

Implications:

While effective therapies are currently lacking, the identification of specific molecular targets opens avenues for novel therapeutic strategies.
An anticipated increase in clinical trials for ataxia disorders is expected due to ongoing research and drug development.