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

Neural Regulation

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.

Alzheimer Disease ll: Pathophysiology

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...

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...

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...

Visual Agnosia

Visual Agnosia

Visual agnosia is a condition characterized by the inability to recognize visually presented objects despite having normal vision. For instance, a person with visual agnosia can describe the shape and color of an object but cannot identify or name it. This impairment does not affect their visual field, acuity, color vision, brightness discrimination, language, or memory. An example of this condition in a social setting is someone at a dinner party asking for "that silver thing with a round end"...

You might also read

Related Articles

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

Sort by

Same author

Gravity-Dependent Modulation of Downbeat Nystagmus: Insights From Velocity-Storage Dysfunction.

Annals of clinical and translational neurology·2026

Same author

Revisiting central positional vertigo and nystagmus through the velocity-storage mechanism.

Journal of neurology·2026

Same author

Facial Neuropathy in Patients with Recurrent Painful Ophthalmoplegic Neuropathy.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques·2026

Same author

Prevalence and Relative Proportions of MS, NMOSD, and MOGAD in the Republic of Korea.

Neurology·2026

Same author

Positional Elliptical Pendular Nystagmus in Inferior Olivary Pseudohypertrophy.

Journal of clinical neurology (Seoul, Korea)·2026

Same author

Concomitant short-arm cupulolithiasis and canalithiasis of the posterior semicircular canal: another variant of BPPV?

Journal of neurology·2026

Search research articles

Related Experiment Video

Updated: Jul 10, 2026

Cerebellar Regional Dissection for Molecular Analysis

Cerebellar Regional Dissection for Molecular Analysis

Published on: December 5, 2020

Neural Correlates of Intellectual Dysfunction in Episodic Ataxia Type 2.

Hyo-Jung Kim¹, Eek-Sung Lee², Seoyeon Kim³

¹Biomedical Research Institute, Seoul National University Bundang Hospital, Seongnam, Korea.

Journal of Clinical Neurology (Seoul, Korea)

|July 9, 2026

Summary

Episodic ataxia type 2 (EA2) patients show brain atrophy, particularly in the cerebellum and brainstem. This brain volume loss correlates with cognitive deficits, offering insights into EA2

Keywords:

brainstem cerebellum cognitive dysfunction episodic ataxia type 2 magnetic resonance imaging vertigo

More Related Videos

Examining the Characteristics of Episodic Memory using Event-related Potentials in Patients with Alzheimer's Disease

Examining the Characteristics of Episodic Memory using Event-related Potentials in Patients with Alzheimer's Disease

Published on: August 30, 2011

Electroencephalography Network Indices as Biomarkers of Upper Limb Impairment in Chronic Stroke

Electroencephalography Network Indices as Biomarkers of Upper Limb Impairment in Chronic Stroke

Published on: July 14, 2023

Related Experiment Videos

Last Updated: Jul 10, 2026

Cerebellar Regional Dissection for Molecular Analysis

Cerebellar Regional Dissection for Molecular Analysis

Published on: December 5, 2020

Examining the Characteristics of Episodic Memory using Event-related Potentials in Patients with Alzheimer's Disease

Examining the Characteristics of Episodic Memory using Event-related Potentials in Patients with Alzheimer's Disease

Published on: August 30, 2011

Electroencephalography Network Indices as Biomarkers of Upper Limb Impairment in Chronic Stroke

Electroencephalography Network Indices as Biomarkers of Upper Limb Impairment in Chronic Stroke

Published on: July 14, 2023

Area of Science:

Neuroimaging
Neurology
Genetics

Background:

Episodic ataxia type 2 (EA2) is a neurological disorder caused by mutations in the CACNA1A gene, affecting P/Q-type calcium channels.
EA2 is characterized by recurrent episodes of vertigo and ataxia, and associated cognitive dysfunction.

Purpose of the Study:

To identify the neural correlates of cognitive dysfunction in EA2.
To investigate brain atrophy patterns in EA2 patients.
To determine the relationship between regional brain volumes and intellectual deficits in EA2.

Main Methods:

Voxel-based morphometry and FreeSurfer were used to quantify regional brain volumes in 12 EA2 patients and healthy controls.
Voxel-wise multiple regression analyses within a general linear model framework assessed correlations between gray-matter volumes (GMVs) and cognitive function.
The study was conducted across three South Korean university hospitals between 2019 and 2023.

Main Results:

Significant reductions in cerebellar volumes (vermis, flocculi) and brainstem were observed in EA2 patients compared to controls.
Positive correlations were found between Full-Scale Intelligence Quotient and GMVs in the left parahippocampal gyrus, right caudate nucleus, and right cerebellar crus II.
Verbal Comprehension Index correlated with GMVs in bilateral cerebellar crura I and II, while Processing Speed Index correlated with right parahippocampal gyrus GMV.

Conclusions:

Brain atrophy in the cerebellum and brainstem is evident in EA2 patients.
The observed brain atrophy correlates with cognitive impairments, suggesting a link between structural changes and intellectual dysfunction in EA2.
These findings contribute to understanding the imaging spectrum of CACNA1A-related disorders, though further interpretation is warranted.