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Latest Spinocerebellar ataxia Stories

2014-02-07 13:01:17

Researchers from North Carolina State University have found a link between a mutation in a gene called RAB 24 and an inherited neurodegenerative disease in Old English sheepdogs and Gordon setters. The findings may help further understanding of neurodegenerative diseases and identify new treatments for both canine and human sufferers. Hereditary ataxias are an important group of inherited neurodegenerative diseases in people. This group of diseases is the third most common...

2014-02-03 10:24:50

Disruptive clumps of mutated protein are often blamed for clogging cells and interfering with brain function in patients with the neurodegenerative diseases known as spinocerebellar ataxias. But a new study in fruit flies suggests that for at least one of these diseases, the defective proteins may not need to form clumps to do harm. The study, published February 1, 2014, in the journal Genes and Development, focuses on ataxin-7, the gene that is mutated in patients with spinocerebellar...

2013-06-10 11:17:57

First in vivo study of the treatment for this condition shows significant physical improvement The group of genetic conditions known as spinocerebellar ataxias currently have no treatment or cure and are always fatal, in the case of affected children at an early age. Symptoms include a progressive lack of co-ordination of gait, and poor co-ordination of hands, speech and eye movements, due to a failure of co-ordination of muscle movements. Now researchers from France and the US have found...

2013-04-18 22:00:23

Study finds abnormal protein translation leads to Fragile X ataxia, a disorder seen in grandfathers of children with Fragile X syndrome A bizarre twist on the usual way proteins are made may explain mysterious symptoms in the grandparents of some children with mental disabilities. The discovery, made by a team of scientists at the University of Michigan Medical School, may lead to better treatments for older adults with a recently discovered genetic condition. The condition, called...

2013-04-02 12:46:05

The most common genetic cause of both ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) was recently identified as an alteration in the gene C9orf72. But how the mutation causes neurodegenerative disease appeared mysterious. Researchers at Emory University School of Medicine have demonstrated that this ALS/FTD mutation may be harmful because it creates an "RNA sponge," soaking up an important regulatory protein that binds RNA. The results were published online Monday...

2013-02-28 14:16:28

What is the cost of rare diseases such as Friedreich's Ataxia? By analyzing direct and indirect costs of care research in BioMed Central's open access journal Orphanet Journal of Rare Diseases calculated that conservatively this rare disease costs between £11,000 and £19,000 per person per year. Proper understanding resource allocation is important in minimizing the effect of Friedreich's Ataxia on people's lives while maximizing their quality of life. Diseases are classified...

2012-06-18 22:04:28

A novel candidate gene in human early-onset degenerative ataxias Researchers at the University of Helsinki and the Folkhälsan Research Center, Finland, have identified the genetic cause of early-onset progressive cerebellar degeneration the Finnish Hound dog breed. The study, led by Professor Hannes Lohi, revealed a new disease mechanism in cerebellar degeneration. A mutation was identified in the SEL1L gene, which has no previous link to inherited cerebellar ataxias....

2012-02-22 22:11:45

The University of South Florida-led multicenter study investigated the effectiveness of varenicline A nicotinic drug approved for smoking cessation significantly improved the walking ability of patients suffering from an inherited form of ataxia, reports a new clinical study led by University of South Florida researchers. The randomized controlled clinical trial investigated the effectiveness of varenicline (Chantix®) in treating spinocerebellar ataxia type 3, or SCA3. The findings...

2011-11-04 22:56:24

When Dr. John Fryer and Dr. Huda Zoghbi prescribed mild exercise for mice with a neurodegenerative disorder called spinocerebellar ataxia 1 (SCA1), they did not know what to expect. Fryer, then a postdoctoral associate in the lab of Zoghbi, the Baylor College of Medicine researcher who co-discovered the gene for the disorder, was disappointed when the exercise did not affect the mice's gait or walking ability. However, he and Zoghbi decided to put them back in their cages and see what...


Word of the Day
omphalos
  • The navel or umbilicus.
  • In Greek archaeology: A central boss, as on a shield, a bowl, etc.
  • A sacred stone in the temple of Apollo at Delphi, believed by the Greeks to mark the 'navel' or exact center-point of the earth.
'Omphalos' comes from the ancient Greek.
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