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.

Long-term disease progression in spinocerebellar ataxia quantified

Researchers have quantified the progression of the most common spinocerebellar ataxias over a follow-up period of up to 8 years in steps to improve sample size calculations for future interventional trials.

16 Sep 2015

Riluzole ‘a candidate treatment’ for cerebellar ataxia

Riluzole may be an effective treatment for cerebellar ataxia, say researchers who call for further studies to confirm their findings.

9 Sep 2015

USF, FARA to jointly host scientific symposium on Friedreich's ataxia

The University of South Florida will again bring together leading researchers and patients searching for a treatment for Friedreich's ataxia and related disorders at the seventh annual scientific symposium "Understanding Energy for A Cure." The symposium will be held 5 to 8:30 p.m., Thursday, Sept. 17, at the USF Marshall Student Center Ballroom, USF Cedar Circle, Tampa, FL 33620.

2 Sep 2015

Vtesse reports preliminary results from VTS-270 Phase 1 trial for treatment of Niemann-Pick Disease Type C

Vtesse, Inc. announced preliminary results today from an open-label Phase 1 clinical trial with VTS-270 (a formulation of (2-hydroxypropyl)-beta-cyclodextrin) for treatment of Niemann-Pick Disease Type C (NPC) conducted by researchers at the National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development.

6 Aug 2015

Study focuses on regulation of neuronal plasticity

A team of scientists has linked changes in the structure of a handful of central brain neurons to understanding how animals adjust to changing seasons. Its findings enhance our understanding of the mechanisms vital to the regulation of our circadian system, or internal clock.

31 Jul 2015

New finding could help change pharmaceutical treatment of neurodegenerative diseases

Diseases like Alzheimer's are caused when proteins aggregate and clump together. In a world first, EPFL scientists have successfully distinguished between the disease-causing aggregation forms of proteins.

28 Jul 2015

New Internet tool may help analyze genes based on their evolutionary profile

Two major revolutions, one genomic and one in informatics, are completely changing the face of biomedical research. Every day all over the world, millions of genetic sequences -- from disease-related genes to complete genomes of plants, animals, bacteria and viruses -- are resolved, identified and dissected.

26 Jun 2015

Ruhr-Universität Bochum scientists develop mouse model to investigate SCA6

Scientists at the Ruhr-Universität Bochum established a mouse model for the human disease SCA6. SCA6 is characterised by movement deficits and caused by similar genetic alterations as Chorea Huntington. The mouse model will be used to investigate the disease mechanisms.

17 Jun 2015

Two fragile X proteins play crucial role in proper development of neurons

Fragile X syndrome is the most common inherited intellectual disability and the greatest single genetic contributor to autism. Unlocking the mechanisms behind fragile X could make important revelations about the brain.

11 Jun 2015

UC Davis funds BRAIN-STIM program to uncover potential treatments for neurodegenerative disorders

In 2013, President Obama announced the Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative, unveiling plans to make a bold investment to understand the human mind with the intent to uncover ways to prevent, treat and cure brain disorders like Alzheimer's, autism, and epilepsy.

9 Jun 2015

Research provides insights into the ability of FL118 to overcome treatment resistance

The latest research from the team that discovered the novel anticancer agent FL118 highlights distinctive characteristics of this small-molecule compound and provides insights into its ability to overcome the persistent problem of treatment resistance. In findings reported in Molecular Cancer, Fengzhi Li, PhD, of Roswell Park Cancer Institute, and colleagues provide new evidence that FL118 may be more effective than two structurally similar injectable drugs and, additionally, may be effective as an oral agent.

30 Apr 2015

Study finds link between neurodegenerative disorders and inflammation

Researchers from McMaster University and the Icahn School of Medicine at Mount Sinai, New York have discovered that a protein associated with neurodegenerative diseases like ALS also plays an important role in the body's natural antiviral response.

30 Mar 2015

Study highlights the treatable causes of cerebellar ataxias

No cures are possible for most patients who suffer debilitating movement disorders called cerebellar ataxias. But in a few of these disorders, patients can be effectively treated with regimens such as prescription drugs, high doses of vitamin E and gluten-free diets, according to a study in the journal Movement Disorders.

24 Mar 2015

European scientists identify gene linked with certain types of early-onset epilepsy

Certain types of early-onset epilepsy are caused by previously unknown mutations of a potassium channel gene, KCNA2. The mutations disrupt the electrical balance in the brain in two ways. In some patients, the flow of potassium is greatly reduced; while in others, it is raised enormously. Both states can lead to hard-to-treat epileptic seizures. Mental and motor development can come to a stop, or even to regress.

12 Mar 2015

Researchers show importance of DNA damage in fine tuning of innate immune system

For the first time scientists from Umeå University show the importance of DNA damage in fine tuning of our innate immune system and hence the ability to mount the optimal inflammatory response to infections and other biological dangers.

18 Feb 2015

Whole exome sequencing helps Mayo Clinic neurologist solve a medical mystery

Precision medicine is getting a jump-start from a new national initiative announced in President Obama's State of the Union message. One Georgia family has already experienced its benefits: genomic testing called whole exome sequencing helped Mayo Clinic neurologist Zbigniew Wszolek, M.D., solve a medical mystery that had left a boy with painful, jerking spasms that at times prevented him from walking or talking.

4 Feb 2015

TAU's Yosef Shiloh receives Olav Thon Foundation's first international research award

Norway's largest charitable organization, the Olav Thon Foundation, which invests heavily in medical research, awarded its first international research award in the medical and natural sciences to Tel Aviv University's Prof. Yosef Shiloh and Prof. Judith Campisi of the Buck Institute for Research on Aging, California.

22 Jan 2015

Genetic finding could lead to new treatments for people living with blindness, vision loss

Finding genes for retinal degenerations has immediate benefits for people living with blindness and vision loss, their families, and their physicians. Establishing a genetic cause confirms the clinical diagnosis at the molecular level, helps predict the future visual prognosis, suggests therapies, and allows some patients to join clinical trials. While more than 200 genes for retinal degenerations have been identified, approximately 40-50% of cases remain a mystery.

13 Jan 2015

TSRI researchers identify enzyme that produces inflammatory lipid molecules in the brain

A team led by scientists at The Scripps Research Institute has identified an enzyme that produces a class of inflammatory lipid molecules in the brain. Abnormally high levels of these molecules appear to cause a rare inherited neurodegenerative disorder, and that disorder now may be treatable if researchers can develop suitable drug candidates that inhibit this enzyme.