Spinocerebellar ataxia
Citation, DOI, disclosures and article data
At the time the article was created Frank Gaillard had no recorded disclosures.
View Frank Gaillard's current disclosuresAt the time the article was last revised Rohit Sharma had no financial relationships to ineligible companies to disclose.
View Rohit Sharma's current disclosures- Spinocerebellar degeneration
- Spinocerebellar ataxias
- Spinocerebellar ataxia (SCA)
Spinocerebellar ataxias comprise a large and expanding group of diseases characterized by degeneration of the spinal cord and cerebellum.
There are 50 individual spinocerebellar ataxias (as of December 2022) 2 referred to sequentially as SCA1, SCA2, ... in order of their discovery and genetic characterization.
Radiographic features
Although individual spinocerebellar ataxias vary in morphological changes, atrophy of the cerebellum is a relatively constant finding. Extracerebellar regions are also affected, depending on the specific SCA 1.
References
- 1. Lasek K, Lencer R, Gaser C et-al. Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). Brain. 2006;129 (9): 2341-52. Brain (full text) - doi:10.1093/brain/awl148 - Pubmed citation
- 2. Rafehi H, Read J, Szmulewicz D et al. An Intronic GAA Repeat Expansion in FGF14 Causes the Autosomal-Dominant Adult-Onset Ataxia SCA50/ATX-FGF14. Am J Hum Genet. 2022. doi:10.1016/j.ajhg.2022.11.015 - Pubmed
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