Spinocerebellar ataxia
Citation, DOI & article data
- 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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