Spinocerebellar Ataxia News and Research

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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.

12 May 2014

Diagnosis of Huntington's disease requires combination of clinical symptoms, radiological changes, genetic diagnosis

Huntington's disease is an autosomal-dominant inherited neurodegenerative disease with a distinct phenotype, but the pathogenesis is unclear.

6 May 2014

Study shows link between cerebellum and body's ability to sense movement and limb position

Researchers at the Kennedy Krieger Institute announced today study findings showing, for the first time, the link between the brain's cerebellum and proprioception, or the body's ability to sense movement and joint and limb position.

5 Sep 2013

Human gene expression mechanism opens new therapeutic strategies against neurological disease

In a study that could change the way scientists view the process of protein production in humans, University of Chicago researchers have found a single gene that encodes two separate proteins from the same sequence of messenger RNA.

4 Jul 2013

Study could open up new possibilities for early diagnosis of motor disorders

The scientists report these findings in the current online edition of "The Lancet Neurology". This pan-European study could open up new possibilities of early diagnosis and smooth the way for treatments which tackle diseases before the patient's nervous system is irreparably damaged.

24 May 2013

Northwestern University scientists identify gene important to morning wake-up call

Northwestern University scientists have shown a gene involved in neurodegenerative disease also plays a critical role in the proper function of the circadian clock.

17 May 2013

Researchers to develop new diagnostic tools and treatments for people with rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

25 Jan 2013

JPND invites proposals from researchers to understand the underlying causes of neurodegenerative diseases

The EU Joint Programme - Neurodegenerative Disease Research (JPND) is inviting calls for proposals from research teams across Europe to increase understanding of the factors that put people at risk of developing neurodegenerative diseases (ND) such as Alzheimer's and also to evaluate health and social care strategies for people living with these debilitating illnesses.

10 Dec 2012

Video gaming helps coordination in children with degenerative ataxia

Whole-body controlled video gaming may help children and adolescents with degenerative ataxia to improve the physical symptoms of their condition, say researchers.

13 Nov 2012

Researchers discover gene mutations linked to spinocerebellar ataxia

A global hunt for the cause of a crippling inherited nerve disorder has found its target. The discovery opens the door for better diagnosis and treatment of this particular disease - but also for better understanding of why nerves in the brain's movement-controlling center die, and how new DNA-mapping techniques can find the causes of other diseases that run in families.

13 Aug 2012

Huntington’s disease may protect against cancer: Study

Dr Jianguang Ji, Lund University, and Skåne University Hospital, Malmö, Sweden, and colleagues investigated data from the Swedish Cancer Registry. Researchers analyzed Swedish hospital data from 1969 to 2008. They found 1,510 patients with Huntington's disease. During the study period, 91 of those patients subsequently developed cancer. The authors said that was 53% lower than the levels expected for the general population.

15 Apr 2012

Varenicline improves walking ability in patients with SCA3

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.

23 Feb 2012

Scientists identify compound that can help repair toxic RNA defect

Scientists from the Florida campus of The Scripps Research Institute have identified a compound that can help repair a specific type of defect in RNA, a type of genetic material.

18 Jan 2012

New cellular targets for devastating neurological disorder

In a paper published in the November 9 issue of The Journal of Neuroscience, researchers at the University of California, San Diego School of Medicine and University of Washington describe in deeper detail the pathology of a devastating neurological disorder, but also reveal new cellular targets for possibly slowing its development.

10 Nov 2011

VEGF protein appears to prevent progression of spinocerebellar ataxia type 1

A protein that promotes the growth of neurons and blood vessels appears to stop the progression of a genetic disease that causes degeneration of the cerebellum, according to new preclinical Northwestern Medicine research published in Nature Medicine.

18 Oct 2011

Reversing low VEGF levels may potentially treat patients with SCA1

A groundbreaking study in the journal Nature Medicine suggests what could become the first effective treatment for a debilitating and fatal disease of the central nervous system called SCA1.

18 Oct 2011

Scientists uncover novel mechanism linked to Spinocerebellar ataxia 7

A team of scientists, led by researchers at the University of California, San Diego School of Medicine, have uncovered a novel mechanism regulating gene expression and transcription linked to Spinocerebellar ataxia 7, an inherited neurological disorder.

22 Jun 2011

Ataxin 2 gene mutation contributes to Lou Gehrig's disease: Research

An international study led by biologists and neuroscientists from the University of Pennsylvania has identified a new genetic risk factor for amyotrophic lateral sclerosis, commonly known as ALS or Lou Gehrig's disease.

26 Aug 2010

Gene patenting policies affect patient access to testing for disease-causing genes: Study

Policies allowing genes to be patented can make it more difficult for patients to access testing for important disease-causing gene mutations, according to a series of papers in a special online supplement published by Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

7 May 2010

Defective protein responsible for SCA5 disease cuts synaptic terminals and snarls traffic inside neurons

The neurodegenerative disease spinocerebellar ataxia type 5 (SCA5) damages nerve cells in two ways. University of Minnesota researchers now report that the defective protein responsible for the disease cuts the number of synaptic terminals and snarls traffic inside neurons.

7 Apr 2010