Iva Stankovic1, Alessandra Fanciulli2, Vladimir S Kostic1, Florian Krismer2, Wassilios G Meissner3,4,5,6, Jose Alberto Palma7, Jalesh N Panicker8,9, Klaus Seppi2, Gregor K Wenning2. 1. Neurology Clinic, Clinical Center of Serbia, School of Medicine University of Belgrade Belgrade Serbia. 2. Department of Neurology Medical University of Innsbruck Innsbruck Austria. 3. Department of Neurology for Neurodegenerative Diseases, French Reference Center for MSA University Hospital Bordeaux Bordeaux France. 4. Institute of Neurodegenerative Diseases, University Bordeaux, CNRS, UMR 5293 Bordeaux France. 5. Department of Medicine University of Otago Christchurch New Zealand. 6. New Zealand Brain Research Institute Christchurch New Zealand. 7. Department of Neurology, Dysautonomia Center, Langone Medical Center New York University School of Medicine New York New York USA. 8. UCL Institute of Neurology London United Kingdom. 9. Department of Uro-Neurology The National Hospital for Neurology and Neurosurgery London United Kingdom.
Abstract
BACKGROUND: Neuroimaging has been used to support a diagnosis of possible multiple system atrophy (MSA). Only blood pressure changes upon standing are included in the second consensus criteria but other autonomic function tests (AFT) are also useful to diagnose widespread and progressive autonomic failure typical of MSA. Additional diagnostic tools are of interest to improve accuracy of MSA diagnosis. OBJECTIVES: To assess the utility of diagnostic tools beyond brain imaging and AFT in enhancing a laboratory-supported diagnosis of MSA to support the upcoming revision of the consensus criteria. METHODS: The International Parkinson and Movement Disorders Society MSA Study Group (MoDiMSA) performed a systematic review of original papers on biomarkers, sleep studies, genetic, neuroendocrine, neurophysiological, neuropsychological and other tests including olfactory testing and acute levodopa challenge test published before August 2019. RESULTS: Evaluation of history of levodopa responsiveness and olfaction is useful in patients in whom MSA-parkinsonian subtype is suspected. Neuropsychological testing is useful to exclude dementia at time of diagnosis. Applicability of sphincter EMG is limited. When MSA-cerebellar subtype is suspected, a screening for the common causes of adult-onset progressive ataxia is useful, including spinocerebellar ataxias in selected patients. Diagnosing stridor and REM sleep behavior disorder is useful in both MSA subtypes. However, none of these tools are validated in large longitudinal cohorts of postmortem confirmed MSA cases. CONCLUSIONS: Despite limited evidence, additional laboratory work-up of patients with possible MSA beyond imaging and AFT should be considered to optimize the clinical diagnostic accuracy.
BACKGROUND: Neuroimaging has been used to support a diagnosis of possible multiple system atrophy (MSA). Only blood pressure changes upon standing are included in the second consensus criteria but other autonomic function tests (AFT) are also useful to diagnose widespread and progressive autonomic failure typical of MSA. Additional diagnostic tools are of interest to improve accuracy of MSA diagnosis. OBJECTIVES: To assess the utility of diagnostic tools beyond brain imaging and AFT in enhancing a laboratory-supported diagnosis of MSA to support the upcoming revision of the consensus criteria. METHODS: The International Parkinson and Movement Disorders Society MSA Study Group (MoDiMSA) performed a systematic review of original papers on biomarkers, sleep studies, genetic, neuroendocrine, neurophysiological, neuropsychological and other tests including olfactory testing and acute levodopa challenge test published before August 2019. RESULTS: Evaluation of history of levodopa responsiveness and olfaction is useful in patients in whom MSA-parkinsonian subtype is suspected. Neuropsychological testing is useful to exclude dementia at time of diagnosis. Applicability of sphincter EMG is limited. When MSA-cerebellar subtype is suspected, a screening for the common causes of adult-onset progressive ataxia is useful, including spinocerebellar ataxias in selected patients. Diagnosing stridor and REM sleep behavior disorder is useful in both MSA subtypes. However, none of these tools are validated in large longitudinal cohorts of postmortem confirmed MSA cases. CONCLUSIONS: Despite limited evidence, additional laboratory work-up of patients with possible MSA beyond imaging and AFT should be considered to optimize the clinical diagnostic accuracy.
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