Ataxia News and Research

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Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying disfunction of the parts of the nervous system that coordinate movement, such as the cerebellum.

Reciprocal Regulatory Link Between ecDNA Maintenance and DNA Damage Response Revealed

Extrachromosomal DNA (ecDNA) is a unique form of circular DNA that exists outside of normal chromosomes.

29 Apr 2025

Minoryx Announces Dosing of the First Patient with Leriglitazone in the Phase 2a Study in Rett Syndrome (TREE Study)

Minoryx Therapeutics, a late-stage biotech company focused on the development of therapies for orphan central nervous system (CNS) disorders, today announces that the first patient in the TREE study has been dosed with leriglitazone.

6 Mar 2025

Study Clarifies Genetic Thresholds for Diagnosing SCA6

The Department of Neurology at Niigata University and National Center of Neurology and Psychiatry has identified pathogenic thresholds for the CAG repeat units (RU) of the CACNA1A gene that causes SCA6.

3 Mar 2025

Researchers Provide Genetic Diagnosis for 30 Long-Term Undiagnosed Cases

An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing.

11 Nov 2024

Unlocking the Mysteries of Repeat Expansion in Genetics

Research led by scientists at Queen Mary University of London is heralding in a new era for genetic sequencing and testing.

3 Oct 2024

Brain Organoids Emerge as Powerful Tool for Drug Discovery in Mitochondrial Disease

The use of brain organoids in screening for drugs against mitochondrial diseases, which have hitherto presented challenges in treatment.

4 Jun 2024

Study Reveals Structure of Two Nucleic Acid-Degrading Enzymes

When nucleic acids like DNA or RNA build up in a cell's cytoplasm, it sets off an alarm call for the immune system.

3 Apr 2024

Traffic Jam in the Brain: Study Uncovers Cellular Cause of Rare Neurological Disease

Researchers from McGill University, led by Professor Alanna Watt of the Department of Biology, have identified previously unknown changes in brain cells affected by a neurological disease.

22 Jan 2024

Scientists Develop Tiny Human Cerebellums to Decipher Disease and Design Therapies

In a first for USC Stem Cell scientists, the laboratory of Giorgia Quadrato, an assistant professor of stem cell biology and regenerative medicine, has pioneered a novel human brain organoid model that generates all the major cell types of the cerebellum, a hindbrain region predominantly made up of two cell types necessary for movement, cognition, and emotion: granule cells and Purkinje neurons.

5 Jan 2024

The Pathogenic Mechanism Underpinning MEPAN Syndrome

New research published in Nature Metabolism discovered the pathogenic mechanism driving mitochondrial enoyl reductase protein-associated neurodegeneration (MEPAN) syndrome, a rare pediatric neurodegenerative disease.

1 Sep 2023

Scientists Discover How Brain's "Population Clock" Guides Behavior

From Aristotle's musings on the nature of time to Einstein's theory of relativity, humanity has long pondered: how do we perceive and understand time? The theory of relativity posits that time can stretch and contract, a phenomenon known as time dilation. Just as the cosmos warps time, our neural circuits can stretch and compress our subjective experience of time. As Einstein famously quipped, "Put your hand on a hot stove for a minute, and it seems like an hour. Sit with a pretty girl for an hour, and it seems like a minute".

14 Jul 2023

Rescue Treatment Found From Plant Extracts for People With Ataxia

A University of California, Irvine-led team of researchers have discovered that extracts from plants used by the Kwakwaka'wakw First Nations peoples in their traditional botanical medicine practices are able to rescue the function of ion channel proteins carrying mutations that cause human Episodic Ataxia.

22 Jun 2023

How the Natural Process of DNA Repair Fails to Cause Disease

We often come to an understanding of what causes a disease. We know, for example, that cancers are caused by mutations at critical locations in the genome, resulting in loss of control of cell growth.

11 May 2023

Research Deepens Our Understanding of Circadian Rhythm Regulation

New research from a multidisciplinary team helps to illuminate the mechanisms behind circadian rhythms, offering new hope for dealing with jet lag, insomnia and other sleep disorders.

27 Apr 2023

Next-Generation Sequencing Provides New Insights into Mutations of Mitochondrial DNA

A high-throughput single-cell single-mitochondrial genome sequencing technology known as iMiGseq has provided new insights into mutations of mitochondrial DNA (mtDNA) and offers a platform for assessing mtDNA editing strategies and genetic diagnosis of embryos prior to their implantation.

17 Apr 2023