In their Ataxia UK-funded research project, Dr Mariana Santos Moreda Graça and her team at the Institute for Molecular and Cell Biology (IBMC, Portugal) developed new cell models to help […]
Ataxia UK-funded project develops new TTBK2 cell models Read More »
In the clinic, assessment of cerebellar ataxias has been largely confined to clinical rating scales (e.g. Scale for Assessment and Rating of Ataxia -SARA-), gait laboratories, imaging of the brain,
Development and Validation of a Patient-Reported Questionnaire of Ataxia Progression Read More »
A new paper from the team at the London Ataxia Centre provides new information on symptoms of the lower urinary tract (LUT) and the bowel in people with spinocerebellar ataxias (SCAs). The lower urinary tract consists of
Ataxia UK, along with Ataxia Global Initiative and National Ataxia Foundation, recently partnered with Critical Path Institute (C-Path) for the launch of their Critical Path to Therapeutics for the Ataxias
The International Neuromodulation Society defines therapeutic neuromodulation as “the alteration of nerve activity through targeted delivery of a stimulus, such as electrical stimulation or chemical agents, to specific neurological sites
Neuromodulation of the cerebellum rescues movement in a mouse model of ataxia Read More »
On September 25, 2020 the National Ataxia Foundation (NAF) and CureDRPLA organised the Externally-Led Patient Focus Drug Development (EL-PFDD) meeting. You can watch the recording here. The EL-PFDD meeting provided a unique opportunity for the
A new government strategy to improve the lives of people living with rare diseases, across the 4 nations of the United Kingdom, has now been launched. The UK Rare Disease Framework, following on from the previous Rare
UK Rare Disease Framework launched to improve diagnosis and treatment of rare diseases Read More »
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is caused by a genetic mutation in the ATXN3 gene. SCA3 is thought to be the most common SCA worldwide,
Neurofilament light tracks SCA3 progression Read More »
A novel test that can measure the faulty protein levels in people with Spinocerebellar Ataxia 3 (SCA3)
Measuring the faulty protein in SCA3 Read More »
Professor Hadjivassiliou at the Sheffield Ataxia Centre, and his colleagues have been investigating a type of ataxia, known as ‘PACA’, that could be responsible for a number of idiopathic ataxia cases.
Diagnosing and treating primary autoimmune cerebellar ataxia (PACA) Read More »
In a project funded by Ataxia UK and the Swiss Association of Friedreich’s Ataxia (ACHAF), Professor Anja Lowit showed positive results using Lee Silverman Voice Treatment (LSVT) for ataxia.
Speech therapy project shows success Read More »
Researchers in Japan have shown that a compound called Arginine is able to prevent harmful protein clumps from forming in cell models of polyglutamine disorders.
Arginine shows promise in a number of different ataxias Read More »
Dr Marta Olejniczak and her colleagues have used a genetic tool to silence the expression of mutated genes containing expanded CAG repeats in patient-derived cell lines of various ataxias.
Genetic approach to treat many spinocerebellar ataxias Read More »
Leading gene therapy uniQure have published data on their gene therapy candidate AMT-150.
uniQure publishes data from spinocerebellar ataxia type 3 gene therapy study Read More »
At the Euro-ataxia meeting in Frankfurt on 9th November 2018 a workshop was held to discuss the role of patients and patient groups in research. This led to the creation of the Euro-ataxia patient charter which has now been published.
Earlier this year the FDA granted an Orphan Drug Designation to an investigational treatment developed by Cadent Therapeutics for spinocerebellar ataxia. They plan to begin a clinical trial by the end of 2019.
Cadent Therapeutics aims to begin new trial in SCAs by the end of 2019 Read More »
An innovative brain stimulation technique known as ‘transcranial Direct Current Stimulation’ or ‘tCDS’ is being trialled as a potential therapy for all ataxias by an Ataxia UK funded research group in Italy.
Spinocerebellar ataxia type 3 (SCA3) and type 1 (SCA1) are caused by mutations in the Ataxin-3 and Ataxin-1 genes that. Researchers recently tested out a type of therapy that works by targeting these genes.
Toxic protein production reduced in SCA3 and SCA1 by genetic approach Read More »
In July 2019, The Neurological Alliance published the results of the 2018/19 National Neurology Patient Experience Survey.
The Neurological Alliance Report: Neuro Patience Read More »
Gene-silencing has featured in the news lately, with the approval of a new type of medicine for the treatment of a condition known as hereditary amyloidosis.
Gene-silencing treatment approved for hereditary amyloidosis Read More »
Ataxia UK is on the steering committee of these two Global Ataxia Schemes, which hope to advance clinical research into ataxia on a worldwide scale.
Leading gene therapy company uniQure have announced preclinical data on its gene therapy candidate, AMT-150, for the treatment of Spinocerebellar Ataxia 3 (SCA3).
uniQure releases new data from Spinocerebellar Ataxia Type 3 gene therapy study Read More »
A mutation in gene found to be responsible for CANVAS, a specific form of late onset ataxia, is likely to also be responsible for forms of late onset ataxia with unknown causes.
Mutation in RFC1 gene is likely to be common cause of late-onset ataxia Read More »
A group of researchers from Germany have found that real-time audio bio-feedback improves stability in degenerative cerebellar ataxia.
A recently published study has demonstrated that intensive home-based speech therapy can improve dysarthria (difficulty speaking) in autosomal recessive spastic ataxia Charlevoix-Saguenay (ARSACS).
The ‘New Modalities Ecosystem’, launched in 2018 by the Finnish pharmaceutical company Orion, aims to exploit Finnish expertise to deliver new treatments and technologies for rare diseases.
New initiative for rare diseases launched by Finnish pharmaceutical company Read More »
A recent study investigating the effect of investigating the effect of physiotherapy on patients with spinocerebellar ataxia type 7 (SCA7) has found that it to significantly improve symptoms.
Effects of physiotherapy in patients with spinocerebellar ataxia type 7 Read More »
Ataxia UK’s Head of Research Julie Greenfield reports on the 2018 Euro-ataxia annual conference held in Frankfurt.
Euro-ataxia annual meeting Read More »
We are delighted that on 20 February 2019 the Ataxia UK Medical Guidelines were published in the Orphanet Journal of Rare Diseases.
Ataxia UK medical guidelines published in peer-reviewed journal Read More »
An imaging technique called Optical Coherence Tomography (OCT) may help with early diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).
New method for diagnosing ARSACS discovered at Specialist Ataxia Centre in London Read More »
