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.

Atomic-level structural models of enzymes provide disease insights

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

2 Apr 2024

Breakthrough discovery points to potential treatment for rare neurodegenerative disease

Imagine being middle-aged and starting to feel that you are off balance a lot and that you are having a hard time coordinating your movements.

27 Mar 2024

Groundbreaking study unveils new insights into neurodegenerative disorder symptoms

Identification of clinical disease trajectories in neurodegenerative disorders with natural language processing.

14 Mar 2024

Combo of targeted and immunotherapy may boost NSCLC treatment by overcoming immune resistance and enhancing anti-tumor activity

Researchers evaluated rational combination treatment regimens for advanced/metastatic non-small-cell lung cancer (NSCLC).

15 Feb 2024

Weill Cornell Medicine researcher wins $2.1 million grant to study repetitive DNA and RNA sequences

Dr. Jeannine Gerhardt, an assistant professor of stem cell biology in obstetrics and gynecology and in reproductive medicine at Weill Cornell Medicine, has received a five-year, $2.1 million grant from the National Institute of General Medical Sciences (NIGMS), part of the National Institutes of Health, for the study of repetitive DNA and RNA sequences and the mechanisms by which they cause cell dysfunction and diseases.

30 Jan 2024

Uncovering the cellular roots of spinocerebellar ataxia type 6

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.

18 Jan 2024

Researchers discover PPFIA3 gene as a cause of previously unknown syndromic neurodevelopmental disorder

An international collaborative study led by postdoctoral scientist, Dr. Maimuna Paul, and child neurologist, Dr. Hsiao-Tuan Chao, an assistant professor at Baylor College, a faculty member with the Cain Pediatric Neurology Research Foundation Laboratories at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, and an investigator at the McNair Medical Institute with The Robert and Janice McNair Foundation, recently discovered that variants in the PPFIA3 gene cause a previously unknown syndromic neurodevelopmental disorder.

4 Jan 2024

USC scientists develop first all-human brain organoids model of the cerebellum with functional neurons

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.

4 Jan 2024

Genetic mutation in OXR1 gene linked to brain development issues

Study investigates the effects of a loss-of-function mutation in the OXR1 gene on neurodevelopment and cellular functions in the human brain. The research shows that OXR1 deficiency impairs neural differentiation, increases sensitivity to oxidative stress, and alters histone methylation, impacting brain development and potentially contributing to neurological disorders.

27 Nov 2023

Study sheds light on specific variants responsible for rare and serious disorder

Many disorders are caused by genetic variants; to make matters worse, the genetic origin of most disorders remains unknown.

15 Nov 2023

UC Riverside scientists slow progression of Huntington's disease in flies and worms

Huntington's disease causes involuntary movements and dementia, has no cure, and is fatal. For the first time, UC Riverside scientists have shown they can slow its progression in flies and worms, opening the door to human treatments.

8 Nov 2023

How chromatin compartmentalization affects DNA damage response

Researchers uncover novel insights into how chromatin compartmentalization influences the DNA damage response (DDR) after double-stranded breaks (DSBs), shedding light on the mechanisms behind genomic integrity maintenance and the risk of translocations. Their findings reveal the importance of chromosomal design in DNA repair and the potential implications for genome stability and cancer translocations.

22 Oct 2023

Shaking things up: Whole-body vibrations rev up metabolism in young men

This study found that repeated sessions of whole-body vibration significantly increased the resting metabolic rate in healthy young men. The results suggest potential applications of whole-body vibration in addressing metabolic health issues, such as obesity.

15 Oct 2023

Groundbreaking discovery reveals how brain proteins can help alleviate DNA replication stress

A team of researchers from the Department of Biological Sciences at UNIST has achieved a significant breakthrough in understanding how brain proteins can help alleviate complications arising from DNA replication stress.

12 Sep 2023

Study reveals pathogenic mechanism of rare pediatric neurodegenerative disorder

A recent study published in Nature Metabolism has revealed the pathogenic mechanism underlying a rare pediatric neurodegenerative disorder known as mitochondrial enoyl reductase protein-associated neurodegeneration (MEPAN) syndrome.

31 Aug 2023

The role of self-extracellular nucleic acids in neuroinflammation

Researchers explore the role of self-extracellular nucleic acids in diseases like stroke, multiple sclerosis, Alzheimer’s disease, and Parkinson’s disease.

14 Aug 2023

Stem cell transplants may be a promising therapeutic against Alzheimer's, study shows

In the ongoing search for a cure for Alzheimer's disease, a burgeoning branch of medicine is bringing new hope. Stem cell therapies are already being used to treat various cancers and disorders of the blood and immune system.

9 Aug 2023

Cerebellum plays a key role in generalized convulsive seizures, study finds

Recurrent seizures are debilitating and can sometimes, be fatal. The onset and presentation of seizures vary significantly among epilepsy patients. Of more than 25 categories of seizure presentations within epilepsy, those with motor convulsions are perhaps the most disruptive and generally most feared among patients and caregivers.

2 Aug 2023

New study quantifies the incidence of neuropsychiatric events in children with flu

While the incidence of influenza-associated neuropsychiatric events in children in the United States is unknown, the controversy over the use of a common antiviral medication typically administered to treat flu in children has sparked concern among parents and medical professionals alike.

24 Jul 2023

UC Davis MIND Institute receives 24th consecutive year of NIH funding for FXTAS research

It's been 22 years since UC Davis MIND Institute Medical Director Randi Hagerman and her husband, researcher Paul Hagerman, discovered the neurodegenerative condition called FXTAS (fragile X-associated tremor ataxia syndrome).

19 Jul 2023