Research by Prof Anja Lowit and her team at Strathclyde University, Glasgow, studying the effectiveness of a new type of speech therapy for some progressive ataxias, has shown some promising …
On Friday 20th and Saturday 21st October 2023, Ataxia UK held their first ever hybrid in-person and virtual annual conference for families affected by ataxia. The conference, which took place …
Reflections on the Ataxia UK Annual Conference 2023 Read More »
Earlier this year, Ataxia UK awarded a travel grant to Dr David Pellerin at University College London, to attend the 2023 Annual Meeting of the American Academy of Neurology. Supporting …
Biohaven is a pharmaceutical company developing Troriluzole as a treatment for SCA3. In May 2023, Biohaven submitted a New Drug Application (NDA) to the US regulators (the FDA), to apply …
Do you want to learn about what gene therapy is, or what the future of gene therapy research may bring? Euro-ataxia, with support from Ataxia UK, will be hosting an …
Late-onset spinocerebellar ataxia 27B (SCA27B) is newly discovered ataxia which is caused by a mutation in a gene called fibroblast growth factor 14 (FGF14). This discovery may lead to more …
Newly discovered ataxia SCA27B shows promising response to a treatment Read More »
SCA-Remote is a study which aims to understand how different spinocerebellar ataxia (SCA) symptoms develop over time. You can read more about the study here. The researchers involved in this …
SCA-Remote study recruiting people without ataxia Read More »
Ataxia UK were saddened to hear that Biogen have stopped their Phase I clinical trial for SCA3 therapeutic BIIB132 (MERA study). The trial was planned to be an international study, …
Biogen announce they have stopped SCA3 clinical trial Read More »
SIMPATHIC Consortium receives grant from European Commission The SIMPATHIC Consortium, led by the Dutch Radboud University Medical Center and Amsterdam University Medical Centers, has developed a new approach to expedite …
8.8 million euros for accelerated drug repurposing for rare neurological disorders Read More »
Vico Therapeutics is a company developing therapies for neurological conditions, including some of the SCAs. In April 2023, they announced that they have dosed the first patient in their Phase …
Vico Therapeutics – First patient dosed in trial Read More »
The optimal clinical pathway sets out what good treatment, care and support looks like for people with neurological conditions, from those experiencing the first symptoms, to those that have lived …
Optimal clinical pathway for people in England with rare neurological conditions Read More »
Professor Anja Lowit (University of Strathclyde) and team have published positive results from their study of a new approach to speech therapy, called ClearSpeechTogether. In this Ataxia UK-funded project, people …
Positive results from Ataxia UK-funded speech therapy project Read More »
Many people with ataxia do not have a specific genetic diagnosis and the cause of their ataxia is unknown. Two papers have been published which have identified a genetic mutation …
New genetic cause of late-onset ataxia discovered Read More »
The 100,000 Genomes Project, launched in 2013, aimed to sequence 100,000 genomes from people with rare conditions, such as ataxia, or cancer. Sequencing the whole genome of people with rare …
Did you take part in the 100,000 Genomes Project? Read More »
Rare neurological conditions, such as ataxia, often cause problems with balance and coordination, which can limit physical activity. Interventions aimed at improving levels of physical activity are often recommended, for …
Last year, we publicised two surveys from the British Paediatric Neurology Association (BPNA) and the James Lind Alliance (JLA). The aim of these surveys was to identify research priorities for …
Top Ten UK research priorities for interventions in childhood neurological conditions Read More »
Researchers from The German Centre for Neurodegenerative Diseases (DZNE) in Tübingen, and the ESMI Consortium, have published a study looking at the potential for gait measurements to quantify progression of …
Gait measurements as a potential biomarker for SCA3 Read More »
The research that Ataxia UK funds has a real impact on the world of ataxia research, and our understanding of all ataxias. Every year we ask Ataxia UK-funded researchers to …
Dr Hector Garcia-Moreno is a Neurologist and Clinical Research Fellow working at the London Ataxia Centre, in the team led by Professor Paola Giunti. Dr Garcia-Moreno is involved in the …
Identification of SCA3 biomarkers – an interview with Dr Hector Garcia-Moreno Read More »
In January 2022, researchers at UCL/UCLH, Children’s Hospital of Philadelphia, Ataxia UK and Friedreich’s Ataxia Research Alliance (FARA), published a paper on the attitudes of people with ataxia towards clinical …
Paper published on the attitudes of people with ataxia towards clinical trials Read More »
An article published in the Lancet Neurology showed that whole genome sequencing (WGS) can detect common inherited neurological disorders, including some ataxias. Genetic testing can be a slow process, with …
A simple DNA test can detect common neurological disorders Read More »
Spinocerebellar ataxias (SCAs) are a group of rare, progressive hereditary genetic disorders that affects the cerebellum, brain stem and spinal cord. Currently, more than 30 types of SCAs have been identified. SCAs are caused by genetic mutations, …
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 …
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, …
A novel test that can measure the faulty protein levels in people with Spinocerebellar Ataxia 3 (SCA3)
