Spinocerebellar Ataxia News and Research

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Researchers uncover key protein that rescues progression of adult spinocerebellar ataxia

Spinocerebellar ataxia is a group of neurodegenerative diseases characterized by progressive incoordination of gait, and is often associated with poor coordination of hands, speech, and eye movements.

27 Jan 2018

Atomic resolution structure of key molecule may contribute to drug discovery for devastating conditions

Culminating a nearly 10 year effort, researchers have determined the atomic resolution structure of a key molecule that translates signals from a cell's local environment into a language that the cell can understand and use.

18 Apr 2017

Targeted treatment slows progression of two degenerative brain diseases in mice

Scientists report a significant step toward combatting two degenerative brain diseases that chip away at an individual's ability to move, and think.

12 Apr 2017

Targeting RNA repeats

RNA repeats are stretches of code in the body that incrementally repeat. For example, in the most common cause of adult-on-set muscular dystrophy a RNA has a repeat of r(CUG) and this three letter code can repeat thousands of times.

20 Feb 2017

Tufts scientists discover reason for incidence of genetic error that causes many disorders

Tufts University researchers have discovered a possible explanation for the occurrence of a genetic error that causes over a dozen neuromuscular and neurodegenerative disorders, including Huntington's disease, myotonic dystrophy and forms of spinocerebellar ataxia.

6 Dec 2016

Rice University scientists uncover new clues to cause of Huntington's disease

Rice University scientists have uncovered new details about how a repeating nucleotide sequence in the gene for a mutant protein may trigger Huntington's and other neurological diseases.

11 Nov 2016

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