Ataxia News and Research

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Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying disfunction of the parts of the nervous system that coordinate movement, such as the cerebellum.

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

Loss of Golgi function may contribute to pathology of neurodegenerative diseases

Disabling a part of brain cells that acts as a tap to regulate the flow of proteins has been shown to cause neurodegeneration, a new study from The University of Manchester has found.

From The University of Manchester 9 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

UAB case study details patient experiencing hemorrhagic stroke after consumption of energy drink

Investigators at the University of Alabama at Birmingham have presented the first case study of a patient experiencing a hemorrhagic stroke — a brain bleed — following consumption of an energy drink.

22 Nov 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

Scientists use latest sequencing technology to review genetic makeup of ataxias syndrome

According to a recent study published in JAMA Neurology, Northwestern Medicine scientists have examined more than a century of data of the genetic makeup of ataxias, a neurodegenerative disorder, to better understand the different forms of this devastating disease and how it affects patients.

8 Nov 2016

NAC improves effectiveness of adoptive cell therapy for treating melanoma

A collaborative team of investigators at the Medical University of South Carolina and Loyola University have demonstrated for the first time that culturing T cells in N-acetyl cysteine (NAC) before they are infused as immunotherapy improves effectiveness and outcomes in a preclinical model of melanoma. These findings were reported in the October 15, 2016 issue of Cancer Research.

17 Oct 2016

Substance NAD+ can extend life and postpone onset of aging processes

The coenzyme NAD+ plays a main role in aging processes. In mice and roundworm adding the substance can both extend life and postpone the onset of aging processes.

14 Oct 2016

NIH researchers design new set of assays for initial screening of patients with Fragile X syndrome

Fragile X syndrome, the most common heritable cause of intellectual disability and a frequent cause of autism, is characterized by abnormalities of the FMR1 gene that are difficult to analyze.

12 Aug 2016

New wonder compound offers strong protection against harmful effects of UVA rays

A new wonder compound developed by University of Bath scientists in collaboration with King's College London offers unprecedented protection against the harmful effects of UVA radiation in sunlight, which include photo-ageing, cell damage and cancer.

20 Jul 2016

FDA approves new ExAblate Neuro to treat patients with essential tremor

The U.S. Food and Drug Administration today approved the first focused ultrasound device to treat essential tremor in patients who have not responded to medication. ExAblate Neuro uses magnetic resonance (MR) images taken during the procedure to deliver focused ultrasound to destroy brain tissue in a tiny area thought to be responsible for causing tremors.

11 Jul 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

Cerebellar not cerebral atrophy predicts poor anti-NMDAR encephalitis outcome

Diffuse cerebral atrophy in patients with anti-N-methyl-D-aspartate receptor encephalitis does not necessarily mean irreversible brain damage, whereas progressive cerebellar atrophy may indicate a poor long-term prognosis, researchers report.

4 May 2016

Intestinal bacteria can be used to reduce cancer risk, reveals UCLA study

Researchers have shown that various types of intestinal bacteria might be factors in both causing and preventing obesity, and in other conditions and diseases. Now, a UCLA study suggests that it could also potentially be used to reduce the risk for some types of cancer.

16 Apr 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

Study identifies gene linked to rare, complex diseases

IRB Barcelona identifies GEMC1 as a master gene for the generation of multiciliated cells—cells with fine filaments that move fluids and substances—which are found exclusively in the brain, respiratory tract, and reproductive system.Defects in multiciliated cells lead to ciliopathies—rare and complex diseases that are poorly understood and for which not all causative genes have been identified.

3 Mar 2016

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