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 α-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.
Highlights
Multiple system atrophy (MSA) is a rare, sporadic, progressive, neurodegenerative disorder combining features of parkinsonism, autonomic dysfunction and cerebellar and pyramidal signs
MSA can be further classified in parkinsonian-type MSA (MSA-P) and cerebellar-type MSA (MSA-C) according to the predominant motor symptoms at evaluation
Many ancillary exams with possible diagnostic value, such as MRI, anal sphincter EMG, cerebrospinal fluid (CSF) analysis and growth hormone (GH) testing have been evaluated in MSA compared to other diseases
Summary
Multiple system atrophy (MSA) is a rare, sporadic, progressive, neurodegenerative disorder combining features of parkinsonism, autonomic dysfunction and cerebellar and pyramidal signs. The possible diagnosis of FXTAS has to be considered especially in the presence of slow disease progression, neuropathy and dementia These clinical features are common among patients with FXTAS, and their assessment may help to differentiate the two disorders. Within 5 years from the diagnosis, about 1⁄4 of patients with idiopathic late onset cerebellar ataxia are diagnosed as affected by MSA-C [113,120,121]. In MSA-C there is loss of motor units innervating the external anal and urethral sphincter muscles reflecting degeneration of Onuf’s nucleus These changes together with detrusor hyperreflexia account for early neurogenic bladder incontinence in MSA-C and they may help differentiate MSA-C from other sporadic late onset cerebellar ataxias in the first 5 years after the onset of the disease [128]. Α-synuclein lowering strategies have shown efficacy in preclinical synucleinopathy models, raising the possibility that these strategies may arrest disease progression in MSA [159]
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