Is pure autonomic failure an early marker for Parkinson disease, dementia with Lewy bodies, and multiple system atrophy? And other updates on recent autonomic research

Muppidi, Srikanth; Miglis, Mitchell G.

doi:10.1007/s10286-017-0408-8

Cited by 8 publications

(9 citation statements)

References 6 publications

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“…The challenge remains to apply these in the clinic to recruit patients for future neuroprotective trials in MSA. Undoubtedly, it is this prodromal phase that provides the window of opportunity to intervene early enough to halt the spread of synuclein throughout the CNS and preserve motor function (Muppidi et al, 2017). …”

Section: Premotor Diagnosis Of Multiple System Atrophymentioning

confidence: 99%

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Diagnosis of multiple system atrophy

Palma

Norcliffe‐Kaufmann

Kaufmann

2018

Autonomic Neuroscience

122

114

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Multiple system atrophy (MSA) may be difficult to distinguish clinically from other disorders, particularly in the early stages of the disease. An autonomic-only presentation can be indistinguishable from pure autonomic failure. Patients presenting with parkinsonism may be misdiagnosed as having Parkinson disease. Patients presenting with the cerebellar phenotype of MSA can mimic other adult-onset ataxias due to alcohol, chemotherapeutic agents, lead, lithium, and toluene, or vitamin E deficiency, as well as paraneoplastic, autoimmune, or genetic ataxias. A careful medical history and meticulous neurological examination remain the cornerstone for the accurate diagnosis of MSA. Ancillary investigations are helpful to support the diagnosis, rule out potential mimics, and define therapeutic strategies. This review summarizes diagnostic investigations useful in the differential diagnosis of patients with suspected MSA. Currently used techniques include structural and functional brain imaging, cardiac sympathetic imaging, cardiovascular autonomic testing, olfactory testing, sleep study, urological evaluation, and dysphagia and cognitive assessments. Despite advances in the diagnostic tools for MSA in recent years and the availability of consensus criteria for clinical diagnosis, the diagnostic accuracy of MSA remains sub-optimal. As other diagnostic tools emerge, including skin biopsy, retinal biomarkers, blood and cerebrospinal fluid biomarkers, and advanced genetic testing, a more accurate and earlier recognition of MSA should be possible, even in the prodromal stages. This has important implications as misdiagnosis can result in inappropriate treatment, patient and family distress, and erroneous eligibility for clinical trials of disease-modifying drugs.

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Section: Premotor Diagnosis Of Multiple System Atrophymentioning

confidence: 99%

“…An autonomic-only presentation can be indistinguishable from pure autonomic failure (PAF) (Kaufmann et al, 2017b; Muppidi et al, 2017). Patients presenting with parkinsonism may be misdiagnosed as PD.…”

Section: Introductionmentioning

confidence: 99%

Diagnosis of multiple system atrophy

Palma

Norcliffe‐Kaufmann

Kaufmann

2018

Autonomic Neuroscience

122

114

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“…Interestingly, the presence of RBD and autonomic failure are now well-recognized prodromal markers of PD/DLB and MSA [2,10]. Moreover, the coexistence of RBD and autonomic failure in patients without overt motor or cognitive deficits carries a very risk of phenoconversion to PD/DLB or MSA [10,14]. Identifying sleep and autonomic abnormalities in patients is, therefore, highly relevant as the presence of these abnormalities has diagnostic, prognostic and therapeutic implications.…”

mentioning

confidence: 99%

Autonomic dysfunction in sleep disorders: introduction to the series

Palma

2018

Clin Auton Res

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Sleep is a fascinating and enigmatic phenomenon occurring, with varying patterns, in virtually all known animal species. This issue of Clinical Autonomic Research features a series of manuscripts authored by renowned experts in the field which focus on the connections between the autonomic nervous system and sleep. Although sleep is not traditionally considered a function regulated by the autonomic nervous system, it is evident that there are overlapping areas in the central nervous system (CNS) that regulate both systems, resulting in interesting and relevant interactions that can potentially impact morbidity and mortality. These interactions are concisely summarized in the review by Fink and colleagues [6], which highlights how specific CNS nuclei play a critical role in regulating cardiovascular autonomic function during both rapid eye movement (REM) and non-REM sleep.The sleep-autonomic interactions can occur, broadly speaking, under three different scenarios, which are not mutually exclusive and can overlap:(1) A common etiology impairs both the autonomic and sleep systems. The α-synucleinopathies, disorders caused by the abnormal accumulation of misfolded α-synuclein, are a very good example of this scenario, as reviewed by Chiaro and colleagues in this issue [5]. Progressive α-synuclein-mediated neurodegeneration of specific brainstem nuclei can result in REM sleep behavior disorder (RBD), a distinctive parasomnia in which patients act out and scream in their dreams. Conversely, α-synuclein-related neurodegeneration of peripheral and central autonomic areas can result in autonomic failure. Consequently, the co-existence of RBD and autonomic failure in patients with pure autonomic failure (PAF) [12], Parkinson disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) is not infrequent. Interestingly, the presence of RBD and autonomic failure are now well-recognized prodromal markers of PD/DLB and MSA [2, 10]. Moreover, the coexistence of RBD and autonomic failure in patients without overt motor or cognitive deficits carries a very risk of phenoconversion to PD/DLB or MSA [10, 14]. Identifying sleep and autonomic abnormalities in patients is, therefore, highly relevant as the presence of these abnormalities has diagnostic, prognostic and therapeutic implications. (2) Failure of sleep-related cardio-respiratory control mechanisms and impaired arousal response cause or aggravate autonomic dysfunction. In this context, autonomic dysfunction can occur in sleep apnea, as reviewed by Fink and colleagues [6], or in the sudden infant death syndrome, as explained by Horne in her authoritative review [9]. These disorders can potentially result in prolonged hypoxia during sleep, cardiac arrhythmias and death. (3) A disorder in which autonomic dysfunction causes or aggravates a sleep disorder. Examples of this would be congenital central hypoventilation and familial dysautonomia (hereditary sensory and autonomic neuropathy type 3), the latter a rare genetic disease characterized by afferent baroref...

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“…Over time, patients initially thought to have PAF may develop features of parkinsonism and ultimately be diagnosed with PD, DLB, or MSA [ 3 , 4 ]. Therefore, Mrs. A was advised to have periodic evaluations with her neurologist.…”

Section: Case Presentationmentioning

confidence: 99%