An update on the cerebellar subtype of multiple system atrophy

Abstract

Multiple system atrophy is a rare and fatal neurodegenerative disorder characterized by progressive autonomic failure, ataxia and parkinsonism in any combination. The clinical manifestations reflect central autonomic and striatonigral degeneration as well as olivopontocerebellar atrophy. Glial cytoplasmic inclusions, composed of aα-synuclein and other proteins are considered the cellular hallmark lesion. The cerebellar variant of MSA (MSA-C) denotes a distinctive motor subtype characterized by progressive adult onset sporadic gait ataxia, scanning dysarthria, limb ataxia and cerebellar oculomotor dysfunction. In addition, there is autonomic failure and variable degrees of parkinsonism. A range of other disorders may present with MSA-C like features and therefore the differential diagnosis of MSA-C is not always straightforward. Here we review key aspects of MSA-C including pathology, pathogenesis, diagnosis, clinical features and treatment, paying special attention to differential diagnosis in late onset sporadic cerebellar ataxias.