Spinocerebellar ataxia 20 (SCA20)
Neurodegenerative diseases
General description
Spinocerebellar ataxia type 20 (SCA20) is an autosomal dominant cerebellar ataxia disorder mapped to the chromosomal region 11q12.2-11q12.3, which overlaps with the locus for spinocerebellar ataxia type 5 (SCA5). The clinical presentation of SCA20 is characterized by a relatively abrupt onset, with the cardinal features being cerebellar ataxia and dysarthria. In some cases, dysarthria may precede the manifestation of cerebellar signs and symptoms.
Bilateral dentate calcification
Non-SOL
-
Dentate nucleus
The most significant CT finding in SCA20 is bilateral calcification of the dentate nuclei. MRI shows hypointensity in T2WI with occasional central hyperintensity in the dentate nuclei.
Cerebellar atrophy
Non-SOL
-
Cerebellum
Olivary pseudohypertrophy
Non-SOL
-
BrainstemMedullaInferior olivary nucleus