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.

Non-Space occupying lesion

Bilateral dentate calcification

Anatomical regions
  • Dentate nucleus
Bilateral
Plain CT
Calcified attenuation
T2WI
Hypointensity
Bilateral
Central
T2WI
Hyperintensity

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.

Non-Space occupying lesion

Cerebellar atrophy

Anatomical regions
  • Cerebellum
Bilateral
Morphology
Atrophy
Non-Space occupying lesion

Olivary pseudohypertrophy

Anatomical regions
  • Brainstem
    Medulla
    Inferior olivary nucleus
Bilateral
Morphology
Enlargement / swelling
T2WI
Hyperintensity