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Multiple system atrophy (MSA) is a rare neurodegenerative disorder characterized by varied combinations of parkinsonian, cerebellar, autonomic and pyramidal features. Pathognomonic glial cytoplasmic inclusions (GCI), which contain alpha-synuclein, are present in brains of MSA patients. The disease belongs to the so-called alpha-synucleinopathies, a group of diseases including dementia with Lewy bodies, Parkinson disease and Hallervorden-Spatz disease that are characterized by aggregation of alpha-synuclein in affected brain regions. The average age at disease onset is 30 to 50 years with a rapid disease progression resulting in a mean disease duration of 9 years. Most patients first present with an akinetic-rigid parkinsonian syndrome or autonomic symptoms, i.e. erectile dysfunction, bladder dysfunction. Alternatively, cerebellar ataxia might dominate the clinical phenotype. Depending on the predominance of parkinsonian (P) or cerebellar (C) symptomes, MSA has been subdivided into MSA-P and MSA-C. Typically the parkinsonian symptoms show an insufficient response to levodopa therapy. Diagnosis of MSA can only be confirmed at autopsy. |