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

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. [More]
Study focuses on regulation of neuronal plasticity

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. [More]

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. [More]
New Internet tool may help analyze genes based on their evolutionary profile

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. [More]
Ruhr-Universität Bochum scientists develop mouse model to investigate SCA6

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. [More]
Two fragile X proteins play crucial role in proper development of neurons

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. [More]
UC Davis funds BRAIN-STIM program to uncover potential treatments for neurodegenerative disorders

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. [More]
Research provides insights into the ability of FL118 to overcome treatment resistance

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. [More]
Study finds link between neurodegenerative disorders and inflammation

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. [More]
Study highlights the treatable causes of cerebellar ataxias

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. [More]
European scientists identify gene linked with certain types of early-onset epilepsy

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. [More]
Researchers show importance of DNA damage in fine tuning of innate immune system

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. [More]
Whole exome sequencing helps Mayo Clinic neurologist solve a medical mystery

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. [More]
TAU's Yosef Shiloh receives Olav Thon Foundation's first international research award

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. [More]
Genetic finding could lead to new treatments for people living with blindness, vision loss

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. [More]
TSRI researchers identify enzyme that produces inflammatory lipid molecules in the brain

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. [More]
Study confirms safety of two measles-containing vaccines

Study confirms safety of two measles-containing vaccines

A 12-year study of two measles-containing vaccines, published today in Pediatrics, found that seven main adverse outcomes were unlikely after either vaccine. [More]
FL118 agent shows efficacy as personalized, targeted therapy for certain cancer tumors

FL118 agent shows efficacy as personalized, targeted therapy for certain cancer tumors

A team led by Fengzhi Li, PhD, and Xinjiang Wang, PhD, of Roswell Park Cancer Institute has reported new findings regarding therapeutic targets of the novel anticancer agent FL118. Previous studies from these researchers have showed that FL118 induces cancer cell death, or apoptosis, by inhibiting expression of multiple cell-survival proteins (survivin, Mcl-1, XIAP or cIAP2). [More]
Study provides insights into genetic underpinnings of childhood epilepsies

Study provides insights into genetic underpinnings of childhood epilepsies

Technological advances in genetic analysis have uncovered changes in single genes that account for a surprising number of infantile and early-childhood epilepsies. Though some of the affected genes have been identified, the physical manifestations of these alterations remain largely uncharacterized. [More]
Tufts University study explores relationship between transcription, expansions of DNA repeats

Tufts University study explores relationship between transcription, expansions of DNA repeats

Researchers in human genetics have known that long nucleotide repeats in DNA lead to instability of the genome and ultimately to human hereditary diseases such Freidreich's ataxia and Huntington's disease. [More]
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