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.

Effect of COVID-19 mRNA vaccine on in vitro glial cells of the brain studied by Raman spectroscopy and imaging

Researchers studied how the mRNA-based BNT162b2 COVID-19 vaccine altered the biochemical composition of glial and glioma brain cells in vitro.

8 Mar 2022

New DNA test can quickly and accurately identify a range of hard-to-diagnose genetic diseases

A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.

4 Mar 2022

CENTOGENE teams up with Insilico Medicine to improve therapeutic targets for Niemann-Pick disease type C

A commercial-stage company focused on generating data-driven insights to diagnose, understand and treat rare diseases, and Insilico Medicine, an end-to-end Artificial Intelligence (AI) - driven drug discovery company, today announced a research and development collaboration to accelerate the discovery of novel therapeutic targets for Niemann-Pick disease type C

21 Jan 2022

JPND announces call for multinational research on understanding the mechanisms of non-pharmacological interventions

The EU Joint Programme - Neurodegenerative Disease Research (JPND) initiative has announced a joint transnational call for multinational research on understanding the mechanisms of non-pharmacological interventions.

10 Jan 2022

Rutgers study links genetic disorders to walking patterns

Rutgers researchers have linked the genetic disorders Fragile X and SHANK3 deletion syndrome – both linked to autism and health problems – to walking patterns by examining the microscopic movements of those wearing motion-sensored sneakers.

25 Oct 2021

SARS-CoV-2 may have consequences to host cells beyond evoking an immune response

A recent study examined the ability of SARS-CoV-2 to impact DNA damage response and telomere stability in Vero E6 cells.

13 Sep 2021

Adding berzosertib to standard treatment for metastatic urothelial cancer does not extend patient survival

A Phase 2 trial led by City of Hope, a world-renowned research and treatment center for cancer and diabetes, suggests that adding the novel ataxia telangiectasia and Rad3-related (ATR) inhibitor drug berzosertib to standard-of-care chemotherapy for patients with metastatic urothelial cancer does not extend progression-free survival.

27 Aug 2021

Protein implicated in tumor growth may protect against neurodegenerative diseases

Cells translate their genetic material at rapid rates with exquisite precision to reproduce, repair damage or even combat disease.

17 Aug 2021

Mutated enzyme impairs communication between neurons and causes motor defects in SCA34 model

In one type of a rare, inherited genetic disorder that affects control of body movement, scientists have found a mutation in an enzyme that impairs communication between neurons and what should be the inherent ability to pick up our pace when we need to run, instead of walk, across the street.

17 Aug 2021

Optimizing the operation of MRI scanners to visualize finer details of the brain

Experts in magnetic resonance imaging (MRI) at the DZNE are optimizing the operation of MRI scanners as part of an international research effort to enable visualization of finer details of the human brain.

12 Jul 2021

Scientists discover genetic basis and molecular mechanisms of new neurodevelopmental syndrome

Scientists at the University of North Carolina at Chapel Hill School of Medicine and colleagues have demonstrated that variants in the SPTBN1 gene can alter neuronal architecture, dramatically affecting their function and leading to a rare, newly defined neurodevelopmental syndrome in children.

1 Jul 2021

Researchers evaluate diagnostic criteria for anti-NMDA receptor encephalitis in Japanese children

Anti-NMDA receptor (NMDAR) encephalitis was first reported to develop in female young adults with ovarian teratoma.

13 May 2021

Researchers identify genetic cause of a rare neurological disorder

In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children's Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.

7 May 2021

Researchers identify the cause of severe canine juvenile epilepsy

In a study conducted at the University of Helsinki, researchers found a cause for severe epilepsy resulting in death in Parson Russell Terrier puppies at a few months of age. A change in the PITRM1 gene can lead to a dysfunction of mitochondria, the cellular energy pumps.

21 Apr 2021

“Expansion Hunter” method can detect DNA errors that lead to repeat expansion diseases

Detecting hidden genetic defects by applying an existing method to an existing datasets. Researchers at Radboud university medical center have succeeded.

16 Apr 2021

Targeting brain protein may lead to new therapeutic approaches for neurodegenerative disorders

Neurological disorders are the number one cause of disability in the world, leading to seven million deaths each year. Yet few treatments exist for these diseases, which progressively diminish a person's ability to move and think.

16 Apr 2021

Researchers uncover the mysteries of sleep disorders in multiple system atrophy

Multiple system atrophy (MSA) is a neurodegenerative disease with multiple debilitating symptoms. One of them is sleep disorders; however, owing to limited research, little is known about why only some patients are affected, how sleep disorders influence MSA severity, or even how sleep disorders vary across different MSA subtypes.

9 Apr 2021

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