JOURNAL ARTICLE
REVIEW
Add like
Add dislike
Add to saved papers

Spinocerebellar ataxia type 1.

Spinocerebellar ataxia type 1 (SCA1) is one out of nine polyglutamine diseases, a group of late-onset neurodegenerative diseases present only in humans. SCA1, the first autosomal dominant cerebellar ataxia (ADCA) to be genetically characterized, is caused by the expansion of a CAG triplet repeat located in the N-terminal coding region of the disease-causing gene ATX1 located on chromosome 6p23: the mutation results in the production of a mutant protein, dubbed ataxin-1, with a longer-than-normal polyglutamine stretch. The predominant effect of the mutation is thought to be a toxic gain-of-function of the aberrant protein, and longer expansions are associated with earlier onset and more severe disease in subsequent generations. The most common presentation of SCA1 is dominant ataxia 'plus', characterized by cerebellar dysfunctions variably associated with slow saccades, ophthalmoplegia, pyramidal and extrapyramidal features, mild to moderate dementia, amyotrophy, and peripheral neuropathy. Its diagnostic pathological feature is olivopontocerebellar atrophy and degeneration predominantly affects the Purkinje cells and the dentate nuclei of the cerebellum. Pathogenesis is mainly attributed to the toxic effect of mutant ataxin-1, which localizes into the nucleus and, through restricted and aberrant protein-protein interactions, causes putative dysfunctional gene transcription in target cells which leads to late-onset cell dysfunction and death.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

Related Resources

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app