TY - JOUR
T1 - Diagnosing multiple system atrophy
T2 - current clinical guidance and emerging molecular biomarkers
AU - Goolla, Meghana
AU - Cheshire, William P.
AU - Ross, Owen A.
AU - Kondru, Naveen
N1 - Publisher Copyright:
Copyright © 2023 Goolla, Cheshire, Ross and Kondru.
PY - 2023
Y1 - 2023
N2 - Multiple system atrophy (MSA) is a rare and progressive neurodegenerative disorder characterized by motor and autonomic dysfunction. Accurate and early diagnosis of MSA is challenging due to its clinical similarity with other neurodegenerative disorders, such as Parkinson’s disease and atypical parkinsonian disorders. Currently, MSA diagnosis is based on clinical criteria drawing from the patient’s symptoms, lack of response to levodopa therapy, neuroimaging studies, and exclusion of other diseases. However, these methods have limitations in sensitivity and specificity. Recent advances in molecular biomarker research, such as α-synuclein protein amplification assays (RT-QuIC) and other biomarkers in cerebrospinal fluid and blood, have shown promise in improving the diagnosis of MSA. Additionally, these biomarkers could also serve as targets for developing disease-modifying therapies and monitoring treatment response. In this review, we provide an overview of the clinical syndrome of MSA and discuss the current diagnostic criteria, limitations of current diagnostic methods, and emerging molecular biomarkers that offer hope for improving the accuracy and early detection of MSA.
AB - Multiple system atrophy (MSA) is a rare and progressive neurodegenerative disorder characterized by motor and autonomic dysfunction. Accurate and early diagnosis of MSA is challenging due to its clinical similarity with other neurodegenerative disorders, such as Parkinson’s disease and atypical parkinsonian disorders. Currently, MSA diagnosis is based on clinical criteria drawing from the patient’s symptoms, lack of response to levodopa therapy, neuroimaging studies, and exclusion of other diseases. However, these methods have limitations in sensitivity and specificity. Recent advances in molecular biomarker research, such as α-synuclein protein amplification assays (RT-QuIC) and other biomarkers in cerebrospinal fluid and blood, have shown promise in improving the diagnosis of MSA. Additionally, these biomarkers could also serve as targets for developing disease-modifying therapies and monitoring treatment response. In this review, we provide an overview of the clinical syndrome of MSA and discuss the current diagnostic criteria, limitations of current diagnostic methods, and emerging molecular biomarkers that offer hope for improving the accuracy and early detection of MSA.
KW - RT-QuIC
KW - autonomic dysfunction
KW - biomarkers
KW - multiple system atrophy (MSA)
KW - protein amplification assays
KW - α-synuclein
UR - http://www.scopus.com/inward/record.url?scp=85174183247&partnerID=8YFLogxK
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U2 - 10.3389/fneur.2023.1210220
DO - 10.3389/fneur.2023.1210220
M3 - Review article
AN - SCOPUS:85174183247
SN - 1664-2295
VL - 14
JO - Frontiers in Neurology
JF - Frontiers in Neurology
M1 - 1210220
ER -