Spinocerebellar Ataxia Type 14 (SCA14) Diagnostic Approach and Clinical Features

Neuroimaging and Diagnostic Guidelines

• The American College of Radiology recommends MRI of the head without IV contrast as the preferred initial imaging modality to detect cerebellar atrophy, which is a characteristic finding in SCA14 2, 1
• Imaging patterns in SCA14 align with the autosomal dominant spinocerebellar ataxias, showing progressive cerebellar hemispheric and vermian volume loss 1

Diagnostic Approach and Clinical Features

• Clinical diagnosis of SCA14 relies on the combination of slowly progressive cerebellar ataxia with adult onset, family history consistent with autosomal dominant inheritance, and exclusion of other causes, as suggested by the Journal of the American College of Radiology 3, 1
• The presence of pure cerebellar ataxia without significant extrapyramidal signs, ophthalmoplegia, or intellectual disturbance differentiates many SCA14 cases from other SCA subtypes, and a negative Romberg test can help distinguish SCA14 from sensory ataxia 2, 4