Tremor in Spinocerebellar Ataxia: A Scoping Review.

Abstract

Background: Spinocerebellar ataxia (SCA) denotes an expanding list of autosomal dominant cerebellar ataxias. Although tremor is an important aspect of the clinical spectrum of the SCAs, its prevalence, phenomenology, and pathophysiology are unknown.

Objectives: This review aims to describe the various types of tremors seen in the different SCAs, with a discussion on the pathophysiology of the tremors, and the possible treatment modalities.

Methods: The authors conducted a literature search on PubMed using search terms including tremor and the various SCAs. Relevant articles were included in the review after excluding duplicate publications.

Results: While action (postural and intention) tremors are most frequently associated with SCA, rest and other rare tremors have also been documented. The prevalence and types of tremors vary among the different SCAs. SCA12, common in certain ethnic populations, presents a unique situation, where the tremor is typically the principal manifestation. Clinical manifestations of SCAs may be confused with essential tremor or Parkinson's disease. The pathophysiology of tremors in SCAs predominantly involves the cerebellum and its networks, especially the cerebello-thalamo-cortical circuit. Additionally, connections with the basal ganglia, and striatal dopaminergic dysfunction may have a role. Medical management of tremor is usually guided by the phenomenology and associated clinical features. Deep brain stimulation surgery may be helpful in treatment-resistant tremors.

Conclusions: Tremor is an elemental component of SCAs, with diverse phenomenology, and emphasizes the role of the cerebellum in tremor. Further studies will be useful to delineate the clinical, pathophysiological, and therapeutic aspects of tremor in SCAs.