New Genetic Risk Factor for Lou Gehrig's Disease Identified Aug 31, 2010
Following this up with analysis of the type of mutation that is found in ataxin 2 in its other disease, spinocerebellar ataxia 2, or SCA2, a polyQ expansion, they showed a link between expanded ataxin 2 repeats and risk for ALS. The expansions associated with risk for ALS were shorter than those associated with SCA2 but longer than in controls. The ataxin 2 gene had previously been implicated in another neurodegenerative disease called spinocerebellar ataxia 2, or SCA2 ... The study was... (Science Daily)
New Nuclear Breast Imaging Technologies Associated With Higher Cancer Risks, Study Finds Aug 25, 2010
31, 2010) Certain rare mutations in the ataxia telangiectasia mutated (ATM) gene, combined with radiation exposure, may increase a woman's risk of developing a second cancer in the opposite breast, according. . (Science Daily)
Supply and demand Aug 4, 2010
This may underlie the pathology of several diseases including inherited sideroblastic anaemias in which cells are unable to incorporate iron into haemoglobin or the neurodegenerative disorder Friedreich's ataxia, which the EMBL scientists are currently investigating. . (EurekAlert!)
Nna Proteins Play Role in Catastrophic Neuron Death in Mice, Flies -- And Perhaps People Jul 7, 2010
By six weeks of age, they have lost more than 99 percent of their Purkinje cells and display severe gait ataxia, or grossly uncoordinated movement. In addition, pcd mice suffer a sharp, progressive decline in photoreceptor cells. (Science Daily)
Kicking It in the Himalayas Jun 30, 2010
There was some work to be done too along the way after all it was their capstone as the group had to check their blood oxygen level and heart rates each morning to see if it decreased in higher elevations while also monitoring for possible symptoms of acute mountain sickness (nausea, ataxia, ability to sleep, etc. and keeping a daily journal on what they d learned as part of their research. (Muredhawks.com)
The EMBO Journal Jun 15, 2010
Through the identification of a novel ER protein downregulated by mutant ataxin-1, Shiwaku et al. provide important new insight into the little understood non cell-autonomous neurodegenerative mechanisms underlying polyglutamine diseases such as spinocerebellar ataxia 1. Mutant huntingtin-impaired degradation of -catenin causes neurotoxicity in Huntington's disease. (Nature News Service)
New oral solution formulation of antiepileptic drug Vimpat (lacosamide) (C-V) Jun 15, 2010
Patients should be advised that Vimpat may cause dizziness, ataxia, and syncope. Caution is advised for patients with known cardiac conduction problems, who are taking drugs known to induce PR interval prolongation, or with severe cardiac disease. (EurekAlert! -- Business News)
Repligen seeks clearance for drug trial May 15, 2010
Drug developer has filed an application with the to launch a phase 1 study of its potential therapy to treat Friedreich s ataxia, a rare neurodegenerative disease ... Friedreich s ataxia is a congenital neurodegenerative disease caused by a gene defect that leads to a deficiency in the protein frataxin, leading to progressive damage to the nervous system and loss of muscle function ... The filing follows an announcement in December that Repligen (Nasdaq: RGEN) had won a $731,000 research grant... (Boston Business Journal, MA)
Mechanism Elucidated for a Rare Disease: Friedreich's Ataxia May 6, 2010
ScienceDaily (May 4, 2010) Scientists at the Friedrich Miescher Institute for Biomedical Research (FMI, part of the Novartis Research Foundation) have dissected one of the molecular mechanisms underlying Friedreich's ataxia ... The defective gene responsible for Friedreich's ataxia was identified over 20 years ago, but so far our ideas of how this gene causes the disease have been merely speculative ... hler and his team have now carried out experiments demonstrating that this is not the case... (Science Daily)
Around Oconee: Festival time is here Apr 28, 2010
The event supports Friedreich s Ataxia Research Alliance, which raises money for research into the rare neuromuscular disease. Oconee County resident Katie Van Schoick, whose two older sisters, Robbi and Becca Van Schoick, have the disease, is active again this year with the fundraising event. (Athens Banner-Herald)
Blueprint: Volunteer opportunities, calendar Apr 26, 2010
Annual FARA Benefit Bash 7 p.m., The Georgia Club, 1050 Chancellors Drive, Statham; dinner by Outback Steakhouse, drinks, silent auction, raffles and music by The Dirk Howell Band; to raise money for Friedreich s Ataxia Research Alliance (FARA) for research for treatment and possible cures for Friedreich s Ataxia, a rare neuromuscular disease; tickets are $60; corporate sponsorship opportunities are available; www. benefitbash. (Athens Banner-Herald)
Around Oconee: Union Christian BBQ Apr 21, 2010
The event raises money for Friedreich's Ataxia Research Alliance, which raises money for research into this rare neuromuscular disease. Oconee County resident Katie Van Schoick, whose two older sisters, Robbi and Becca Van Schoick, have the disease, is active again this year with the fundraising event. (Athens Banner-Herald)
Primary cilia formation provides insight into genetic diseases Apr 15, 2010
These diseases present symptoms such as mental retardation, retinal blindness, obesity, polycystic kidney disease, liver fibrosis, ataxia and some forms of cancer. The scientists, led by Joe Gleeson, MD, professor of neurosciences and pediatrics at UC San Diego and a Howard Hughes Medical Institute Investigator, and Joon Kim, a UC San Diego postdoctoral fellow, utilized a high-throughput, cell-based screen to evaluate the impact of more than 8,000 genes and their relation to cilia function and... (EurekAlert!)
A Woman with Paresthesias and Ataxia Mar 25, 2010
NEJM -- Case 9-2010 -- A 37-Year-Old Woman with Paresthesias and Ataxia ... Case 9-2010 A 37-Year-Old Woman with Paresthesias and Ataxia ... Dr. Mikael L. Rinne (Neurology): A 37-year-old right-handed woman was admitted to this hospital because of intermittent paresthesias, slurred speech, ataxia, and abnormalities on brain imaging. (New England Journal of Medicine)
Rare ATM gene mutations, plus radiation, may increase risk of a second breast cancer Mar 20, 2010
Certain rare mutations in the ataxia telangiectasia mutated (ATM) 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. Breast cancer survivors are at increased risk of developing a second cancer in the other, or contralateral breast, compared to women who have not had breast cancer. (EurekAlert!)
A scientific study of dancers aims to identify the source of innovation Mar 6, 2010
Another, AtaXia, involves an extensive research project focused around the degenerative illness. Yet another, Amu, aimed at the physical and symbolic functions of the heart. (Boston Globe)
Mauer's future hot topic at Twins awards Jan 30, 2010
" emcee Dick Bremer asked, leading Mauer to deliver a big smile. Other award winners included Joe Nathan, Twins Pitcher of the Year Award; Denard Span, Mike Augustin Media Good Guy Award; Ben Revere, Minor League Player of the Year; David Bromberg, Minor League Pitcher of the Year; and Justin Morneau, Carl R. Pohlad Award winner for outstanding community service. The proceeds from the Diamond Awards will go toward the University of Minnesota's research to fight various neurological diseases --... (MLB.com -- Minnesota Twins)
Hacking Into Cells' Communications System Could Lead to New Drugs to Tackle Neurodegeneration Jan 27, 2010
14, 2008) New research lends insight into the pathogenesis of neurodegeneration in Ataxia telangiectasia. Ataxia telangiectasia (A-T) is a rare, genetic immunodeficiency disease that affects multiple organ. (Science Daily)
Drowsiness, staring and other mental lapses may signal Alzheimer's disease Jan 19, 2010
A neurologist is a doctor with specialized training in diagnosing, treating and managing disorders of the brain and nervous system such as Parkinson's disease, ALS (Lou Gehrig's disease), dementia, West Nile virus, and ataxia. For more information about the American Academy of Neurology, visit. (EurekAlert!)
Excess DNA damage found in cells of patients with Friedreich's ataxia Jan 15, 2010
Biomarkers, new treatments possible for Friedreich's ataxia. PITTSBURGH, Jan. 14 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) ... "Friedreich's ataxia leads to iron overload, setting the stage for cumulative DNA damage that... (EurekAlert!)
