Spinocerebellar Ataxia News and Research

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TSRI scientists develop first drug candidate that neutralizes disease-causing RNA repeats

In an important new study with implications for the treatment of dozens of incurable diseases, scientists from the Florida campus of The Scripps Research Institute have for the first time created a drug candidate that attacks and neutralizes the RNA structure that causes an incurable progressive, inherited disease involving a gradual loss of control over body movement.

1 Jun 2016

Exome sequencing improves speed, accuracy of neurogenetic disorder diagnosis

UCLA researchers have found that a state-of-the-art molecular genetic test greatly improves the speed and accuracy with which they can diagnose neurogenetic disorders in children and adults. The discovery could lead directly to better care for people with rare diseases like spinocerebellar ataxia, leukodsystrophy, spastic paraplegia and many other conditions.

6 Apr 2016

Researchers identify new mutation responsible for spinocerebellar ataxia

Using the genetic information of two different families with three generations of disease, researchers have identified a new mutation responsible for a degenerative and ultimately fatal movement disorder. Through induced pluripotent stem cell techniques, researchers also grew neurons from one patient in the laboratory to be used in future experiments.

15 Mar 2016

NIH-funded analysis identifies three genes that contribute to most common form of glaucoma

An analysis funded by the National Eye Institute (NEI), part of the National Institutes of Health, has identified three genes that contribute to the most common type of glaucoma. The study increases the total number of such genes to 15.

12 Jan 2016

Scientists discover molecular mechanism responsible for degeneration of Purkinje cells in SCA1

Scientists from Bern have discovered a mechanism which is responsible for the degeneration of Purkinje cells in the cerebellum in a neurodegenerative disease called Spinocerebellar ataxia type 1. The results of their study open up new avenues for the future treatment of cerebellum associated degenerative disorders.

7 Jan 2016

Researchers identify biochemical factors that may predict Alzheimer's disease

Investigators have wondered why the brains of some cognitively-intact elderly individuals have abundant pathology on autopsy or significant amyloid deposition on neuroimaging that are characteristic of Alzheimer disease (AD).

22 Dec 2015

UF Health investigators make new discovery about Huntington's disease

University of Florida Health researchers have made a new discovery about Huntington's disease, showing that the gene that causes the fatal disorder makes an unexpected "cocktail" of mutant proteins that accumulate in the brain.

19 Nov 2015

Long-term disease progression in spinocerebellar ataxia quantified

Researchers have quantified the progression of the most common spinocerebellar ataxias over a follow-up period of up to 8 years in steps to improve sample size calculations for future interventional trials.

16 Sep 2015

Riluzole ‘a candidate treatment’ for cerebellar ataxia

Riluzole may be an effective treatment for cerebellar ataxia, say researchers who call for further studies to confirm their findings.

9 Sep 2015

Study focuses on regulation of neuronal plasticity

A team of scientists has linked changes in the structure of a handful of central brain neurons to understanding how animals adjust to changing seasons. Its findings enhance our understanding of the mechanisms vital to the regulation of our circadian system, or internal clock.

31 Jul 2015

New finding could help change pharmaceutical treatment of neurodegenerative diseases

Diseases like Alzheimer's are caused when proteins aggregate and clump together. In a world first, EPFL scientists have successfully distinguished between the disease-causing aggregation forms of proteins.

28 Jul 2015

Ruhr-Universität Bochum scientists develop mouse model to investigate SCA6

Scientists at the Ruhr-Universität Bochum established a mouse model for the human disease SCA6. SCA6 is characterised by movement deficits and caused by similar genetic alterations as Chorea Huntington. The mouse model will be used to investigate the disease mechanisms.

17 Jun 2015

Study provides insights into genetic underpinnings of childhood epilepsies

Technological advances in genetic analysis have uncovered changes in single genes that account for a surprising number of infantile and early-childhood epilepsies. Though some of the affected genes have been identified, the physical manifestations of these alterations remain largely uncharacterized.

7 Dec 2014

New research shows how misfolded proteins are precisely selected for degradation

It's almost axiomatic that misfolded proteins compromise how cells normally function and cause debilitating human disease, but how these proteins are detected and degraded within the body is not well understood.

30 May 2014

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