Abstract
In this review, we describe the wide clinical spectrum of features that can be seen in multiple system atrophy (MSA) with a focus on the premotor phase and the non-motor symptoms providing an up-to-date overview of the current understanding in this fast-growing field. First, we highlight the non-motor features at disease onset when MSA can be indistinguishable from pure autonomic failure or other chronic neurodegenerative conditions. We describe the progression of clinical features to aid the diagnosis of MSA early in the disease course. We go on to describe the levels of diagnostic certainty and we discuss MSA subtypes that do not fit into the current diagnostic criteria, highlighting the complexity of the disease as well as the need for revised diagnostic tools. Second, we describe the pathology, clinical description, and investigations of cardiovascular autonomic failure, urogenital and sexual dysfunction, orthostatic hypotension, and respiratory and REM-sleep behavior disorders, which may precede the motor presentation by months or years. Their presence at presentation, even in the absence of ataxia and parkinsonism, should be regarded as highly suggestive of the premotor phase of MSA. Finally, we discuss how the recognition of the broader spectrum of clinical features of MSA and especially the non-motor features at disease onset represent a window of opportunity for disease-modifying interventions.
Highlights
Multiple system atrophy (MSA) is a sporadic, adult-onset, progressive, rare neurodegenerative disorder of uncertain etiology
Up to 95% of MSA patients experience non-motor symptoms at some point during the course of the disease with autonomic failure, in particular urogenital and cardiovascular symptoms being frequent and early features of MSA [61]. We describe this wide clinical spectrum of features seen in MSA with a focus on the non-motor symptoms and the premotor phase, and provide an up-todate overview of the current understanding in this fastgrowing field
Pathologically confirmed studies demonstrated pre- and postganglionic autonomic lesions in pure autonomic failure (PAF) patients [91, 94]. These findings suggest that PAF is a limited and peripheral form of alpha-synucleinopathy, in contrast to more central forms in Parkinson’s disease (PD) and DLB [95]
Summary
Multiple system atrophy (MSA) is a sporadic, adult-onset, progressive, rare neurodegenerative disorder of uncertain etiology. Up to 75% of MSA cases have a prodromal phase with non-motor symptoms, such as cardiovascular autonomic failure, orthostatic hypotension, urogenital and sexual dysfunction, REM-sleep behavior disorder, and respiratory disorders. These may precede the motor presentation by months to years [60]. Reports of pathologically proven MSA cases in which no classic motor symptoms (cerebellar, parkinsonian, or pyramidal tract) developed during the disease course [195] emphasize the need to consider premotor symptoms in the early evolution of the disorder. Non-invasive positive pressure ventilation (NPPV) Continuous positive airway pressure (CPAP) Tracheostomy
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