In 2023, the gene that causes a type of late-onset spinocerebellar ataxia called SCA27B was discovered. Since then, researchers have been developing a genetic test for the condition, which they plan to make available in the UK. If you are interested in finding out more about the genetic test for SCA27B, or are already diagnosed with SCA27B and want to take part in research, click this link to find out more: ataxia.org.uk/research-news....
🤔It seems very similar in presentation to many types of ataxia ..so testing is necessary.
It is important to note that internationally, 31% (range 15-67%) of genetically confirmed cases of SCA27b have been found in individuals without known inheritance in their families. The prevalence of sporadic cases in the U.S. is currently unknown. Lack of a family history of ataxia should not preclude an individual from being genetically screened for SCA27b.
Thanks for your reply. Clicked on the link and found the information very interesting. I have most of the symptoms described. I don't have nystagmus however. I also have a cognitive defect (Cerebellar Cognitive Affective Syndrome) alongside my ataxia. It states on the clinical findings stage page that people with SCA27b tend not to lose cognitive skills. For this reason and also having no nystagmus issues I wouldn't think it would be worthwhile for me to take part in the research.
I’ve got ILOCA too, and have had all the regular hospital tests for sca’s known & other common ataxia’s, all negative! I’m seeing my neurologist next week, so will ask him about this. I’m interested in knowing, if possible, what has caused my late onset ataxia, and in participating in research for the future generations.
At this stage they only want "genetically proven SCA27b cases" to help them perfect their mass scale test by ensuring it detects "already known positives". Once proven reliable at a larger scale, it'll then be ready to open up testing to all who have progressive Ataxia but don't yet have a diagnosis.
But it only says that at the bottom of the info in the link! You might like to edit your post to make this clear Wobblybee.
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Vatiquinone (EPI-743) a possible treatment for all ataxias.
Idiopathic ataxia or unknown cause.
Survey for Rare Disease UK-for carers and patients with rare diseases.
