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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.
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]
TSRI scientists find simple method to convert human skin cells into sensory neurons

TSRI scientists find simple method to convert human skin cells into sensory neurons

A team led by scientists from The Scripps Research Institute has found a simple method to convert human skin cells into the specialized neurons that detect pain, itch, touch and other bodily sensations. These neurons are also affected by spinal cord injury and involved in Friedreich's ataxia, a devastating and currently incurable neurodegenerative disease that largely strikes children. [More]
FDA accepts Eisai's sNDA for perampanel drug for treatment of PGTC seizures

FDA accepts Eisai's sNDA for perampanel drug for treatment of PGTC seizures

Eisai Inc. announced today that the U.S. Food and Drug Administration (FDA) accepted for review the company's Supplemental New Drug Application (sNDA) for its in-house-discovered AMPA receptor antagonist perampanel for the treatment of primary generalized tonic-clonic (PGTC) seizures. [More]
Study shows inactivation of p53 protein promotes cancer progression

Study shows inactivation of p53 protein promotes cancer progression

Researchers at the Bellvitge Biomedical Research Institute (IDIBELL) and the University of Barcelona have discovered the interaction between HERC2 proteins with another protein called p53 that is inactivated in more than half of human tumors. [More]
Edison's EPI-743 receives FDA orphan drug designation for treatment of Leigh syndrome

Edison's EPI-743 receives FDA orphan drug designation for treatment of Leigh syndrome

Edison Pharmaceuticals today announced that the FDA has granted Orphan Drug status to vatiquinone for the treatment of Leigh syndrome. [More]
New research shows how misfolded proteins are precisely selected for degradation

New research shows how misfolded proteins are precisely selected for degradation

It's almost axiomatic that misfolded proteins compromise how cells normally function and cause debilitating human disease, but how these proteins are detected and degraded within the body is not well understood. [More]
Eisai launches new class of epilepsy treatment Fycompa in France

Eisai launches new class of epilepsy treatment Fycompa in France

Fycompa (perampanel), the first in an entirely new class of treatment for partial onset seizures (the most common form of epilepsy), has today received reimbursement approval from the Comité Economique des Produits de Santé. [More]
Scientists develop new way to decode specific aspects of movement in human brain

Scientists develop new way to decode specific aspects of movement in human brain

Our human brains are filled with maps: visual maps of our external environments, and motor maps that define how we interact physically within those environments. Somehow these separate points of reference need to correspond with - and to - one another in order for us to act, whether it's grasping a coffee cup or hitting a tennis ball. [More]
Study of rare childhood neurodegenerative diseases identifies new source of DNA damage

Study of rare childhood neurodegenerative diseases identifies new source of DNA damage

St. Jude Children's Research Hospital scientists studying two rare, inherited childhood neurodegenerative disorders have identified a new, possibly common source of DNA damage that may play a role in other neurodegenerative diseases, cancer and aging. [More]
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