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.

Breast cancer survivors at increased risk of developing second cancer: Study

Certain rare mutations in the ataxia telangiectasia mutated gene, combined with radiation exposure, may increase a woman's risk of developing a second cancer in the opposite breast, according to a study published online March 19 in the Journal of the National Cancer Institute.

20 Mar 2010

PhRMA President honors Ron and Raychel Bartek for driving awareness of Friedreich's ataxia

Pharmaceutical Research and Manufacturers of America President and CEO Billy Tauzin today honored Ron and Raychel Bartek for their dedicated work driving awareness of Friedreich's ataxia, a debilitating, life-threatening, rare disease.

19 Mar 2010

Global Genes Project: World Rare Disease Day 2010, a tremendous success

The Global Genes Project, a worldwide rare disease awareness initiative, today announced the success from its World Rare Disease Day 2010 efforts and laid out plans for future rare disease awareness campaigns.

8 Mar 2010

NAF to hold third annual Ataxia Investigators Meeting in Rosemont

The National Ataxia Foundation, in conjunction with the University of Chicago program in pathobiology and translational neuroscience, will hold its third annual Ataxia Investigators Meeting March 9-11, 2010, at the Hyatt Regency O'Hare, in Rosemont, Ill. A three-day meeting for patients, caregivers and families will follow at the same location.

6 Mar 2010

Study results of new PCR technology that reports mutations associated with FXS announced

Asuragen, Inc. announced today the results of a collaborative study with scientists at the M.I.N.D. Institute at the University of California Davis evaluating a new PCR technology that reproducibly reports mutations associated with Fragile X syndrome (FXS).

2 Mar 2010

ATM tumor-suppressor also recognizes damage caused by ROS and orders autophagy

ATM, a protein that reacts to DNA damage by ordering repairs or the suicide of the defective cell, plays a similar, previously unknown role in response to oxidative damage outside of the nucleus, researchers report this week in the online version of the Proceedings of the National Academy of Sciences.

19 Feb 2010

New foundational research may advance pharmacological therapies for neurological disorders

Investigators in the Hotchkiss Brain Institute, Faculty of Medicine, have made a major breakthrough in our understanding of nerve impulse generation within the brain.

17 Feb 2010

Findings could pave way for new therapeutic approaches for Friedreich's ataxia

Elevated levels of DNA damage have for the first time been found in the cellular mitochondria and nuclei of patients with the inherited, progressive nervous system disease called Friedreich's ataxia (FRDA), says a multicenter research team led by an expert from the University of Pittsburgh Cancer Institute (UPCI).

18 Jan 2010

Chinese researchers become the world's fifth most prolific contributors to regenerative medicine

Chinese researchers have become the world's fifth most prolific contributors to peer-reviewed scientific literature on clock-reversing regenerative medicine even as a skeptical international research community condemns the practice of Chinese clinics administering unproven stem cell therapies to domestic and foreign patients.

8 Jan 2010

Gene modification of human embryonic stem cells may yield potential treatments for genetic diseases

Biologists have developed an efficient way to genetically modify human embryonic stem cells. Their approach, which uses bacterial artificial chromosomes to swap in defective copies of genes, will make possible the rapid development of stem cell lines that can both serve as models for human genetic diseases and as testbeds on which to screen potential treatments, they say.

8 Jan 2010

Test tube experiments show slight changes in protein chemistry can eliminate Huntington's disease in mice

In Huntington's disease, a mutated protein in the body becomes toxic to brain cells. Recent studies have demonstrated that a small region adjacent to the mutated segment plays a major role in the toxicity. Two new studies supported by the National Institutes of Health show that very slight changes to this region can eliminate signs of Huntington's disease in mice.

28 Dec 2009

University of Florida obtains stimulus grant to establish ataxia consortium

University of Florida neurologists are trying to change that with the help of a $1 million Challenge grant from the National Institute of Neurological Disorders and Stroke to establish a nationwide network of physician-scientists with expertise in clinical ataxia research.

16 Dec 2009

Repligen receives $731,000 to support ongoing development of new treatments for Friedreich's ataxia

Repligen Corporation today announced that the Company has received $731,000 in research funding to support the ongoing development of new treatments for Friedreich's ataxia from the Muscular Dystrophy Association (MDA).

16 Dec 2009

Groundbreaking discovery provides fundamental insights into neurological disorders

Dr. Jeremy Schmahmann, Professor of Neurology at Harvard Medical School and neurologist at the Massachusetts General Hospital in Boston, on Thursday, November 19, presented his laboratory's research on the new field of study called "Connectivity" at the launch of the MINDlink Foundation.

21 Nov 2009

Second-quarter fiscal 2010 results announced by Repligen

Repligen Corporation today reported results for the second quarter of fiscal year 2010, ended September 30, 2009. Total revenue for the quarter was $5,421,000 compared to total revenue of $5,090,000 for the second quarter of fiscal year 2009 ended September 30, 2008.

5 Nov 2009

940nm wavelength laser is superior for treating facial spider veins: BUSM researchers

Researchers from Boston University School of Medicine (BUSM) have concluded that the 940nm wavelength laser is superior for treating facial spider veins (telangiectasias) as compared to the 532nm wavelength laser. The findings, which appear in the recent issue of Lasers in Surgery and Medicine, are the first time these lasers were tested against each other for superiority.

7 Oct 2009

UCLA discovery raises hope for curing genetic disorders caused by nonsense mutations

UCLA scientists have identified two chemicals that convince cells to ignore premature signals to stop producing important proteins. Published in the Sept. 28 edition of the Journal of Experimental Medicine, the findings could lead to new medications for genetic diseases, such as cancer and muscular dystrophy, that are sparked by missing proteins.

29 Sep 2009

Researchers discover potential treatment for Friedreich's ataxia

Using clever chemistry, a Scripps Research team has pinpointed the enzyme target of a drug group that stops the progression of the devastating disease Friedreich's ataxia in mice and may do the same for humans. The findings, developed in collaboration with scientists from Repligen Corporation, help advance this treatment approach one step closer toward human clinical trials, which will be a welcome event for disease sufferers who currently have few treatment options.

25 Sep 2009

Poor money management: A sign of developing Alzheimer's disease

New research finds poor money management skills may indicate that a person with mild memory problems will soon develop Alzheimer's disease. The study is published in the September 22, 2009, print issue of Neurology, the medical journal of the American Academy of Neurology.

22 Sep 2009

Major advance in understanding Friedreich's ataxia

University of Sydney researchers have made a significant advance in understanding the debilitating hereditary disease Friedreich's ataxia, offering hope that new forms of treatment will be developed.

8 Sep 2009