The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6

The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6:

Abstract

Spinocerebellar ataxias (SCA) constitute of a group of degenerative and progressive disorders that can be identified on a molecular and cellular basis. Along with histological changes, the clinical presentation of SCA differs between subtypes. In addition to basic cerebellar dysfunction symptoms, patients with SCA develop gait ataxia, dysphagia, dysarthria, oculomotor disturbances, pyramidal and extrapyramidal disease signs, rigidity, bradycardia, sensory deficits, and mild cognitive and executive function decline. MRI scans have confirmed reduction in mass of frontal, temporal, and parietal portions of the brain along with the cerebellar peduncles, brainstem, and cranial nerve III. Clinically, these damages manifest as decline in cognition and problems with speech, contemplation, and vision. This review article compares the most prevalent subtypes of SCA based on genetic background, pathogenesis, neurological manifestations, other presenting symptoms, and diagnostic workup. Further goals of research in this field should be directed towards a cure for SCA, which currently does not exist.