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.

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

Smoking increases risk for brain shrinkage in multiple sclerosis

People who smoke and have multiple sclerosis (MS) may be at increased risk of brain shrinkage and increased brain lesions related to the disease, according to a study published in the August 18, 2009, print issue of NeurologyÂ®, the medical journal of the American Academy of Neurology. Smoking has already been linked to an increased risk of developing MS.

18 Aug 2009

Scientists discover link between mutations in INPP5E gene and ciliopathies

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, have discovered a connection between mutations in the INPP5E gene and ciliopathies. Their findings, which may lead to new therapies for these diseases, will appear in the online edition of Nature Genetics on August 9.

9 Aug 2009

Repeated stress signals made in cells with metabolism-associated disease encourage the growth of invading bacteria

Mitochondrial diseases disrupt the power generating machinery within cells and increase a person's susceptibility to bacterial infection, particularly in the lungs or respiratory tract.

28 Jul 2009

New clues about the roots of neurological disease

Switching off a key DNA repair system in the developing nervous system is linked to smaller brain size as well as problems in brain structures vital to movement, memory and emotion, according to new research led by St. Jude Children's Research Hospital scientists.

27 Jul 2009

National Institutes of Health develops research plan on Fragile X syndrome and associated disorders

The National Institutes of Health has developed a research plan to advance the understanding of fragile X syndrome and its associated conditions, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. Fragile X syndrome causes intellectual and developmental disabilities and results from a mutation in a gene on the X chromosome.

20 Jul 2009

Don't stress when the going gets tough - you'll go gray!

A study by Japanese researchers has revealed that a certain kind of stress damages the hair - they say "genotoxic stress" damages DNA by depleting the melanocyte stem cells (MSCs) within hair follicles that are responsible for making the pigment-producing cells.

14 Jun 2009

Genotoxic stress makes your hair go gray

Those pesky graying hairs that tend to crop up with age really are signs of stress, reveals a new report in the June 12 issue of Cell, a Cell Press publication.

12 Jun 2009

Small molecules might block mutant protein production in Huntington's disease

Molecules that selectively interfere with protein production can stop human cells from making the abnormal molecules that cause Huntington's disease, researchers at UT Southwestern Medical Center have found.

5 May 2009

Fish oil protects against neurodegenerative diseases

Dr. Nicolas Bazan, Director of the Neuroscience Center of Excellence, Boyd Professor, and Ernest C. and Yvette C. Villere Chair of Retinal Degenerative Diseases Research at LSU Health Sciences Center New Orleans, will present new research findings showing that an omega three fatty acid in the diet protects brain cells by preventing the misfolding of a protein resulting from a gene mutation in neurodegenerative diseases like Parkinson's and Huntington's.

20 Apr 2009