For anybody still Idiopathic

[wobblybee]

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....

#SCA27B #CerebellarAtaxias #GeneticTesting #Genetics #GeneDiscovery #AtaxiaResearch #AtaxiaResearchNews #AtaxiaUK

[Stagger]

What are the signs and symptoms of this particular SCA type wobblybee? I have late onset idiopathic Cerebellar ataxia.

[wobblybee in reply to Stagger]

🤔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.

sca27b.org/#:~:text=SCA27b

[Stagger in reply to wobblybee]

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.

[Frenchoak]

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.