TY - JOUR
T1 - The potential of phosphorylated α-synuclein as a biomarker for the diagnosis and monitoring of multiple system atrophy
AU - Abdul-Rahman, Toufik
AU - Ahluwalia, Arjun
AU - Wireko, Andrew Awuah
AU - Ferreira, Tomas
AU - Tan, Joecelyn Kirani
AU - Wolfson, Maximillian
AU - Ghosh, Shankhaneel
AU - Horbas, Viktoriia
AU - Garg, Vandana
AU - Perveen, Asma
AU - Papadakis, Marios
AU - Ashraf, Ghulam Md
AU - Alexiou, Athanasios
PY - 2024/4/1
Y1 - 2024/4/1
N2 - IntroductionMultiple system atrophy (MSA) is a rapidly progressive neurodegenerative disorder characterized by the presence of glial cytoplasmic inclusions (GCIs) containing aggregated α-synuclein (α-Syn). Accurate diagnosis and monitoring of MSA present significant challenges, which can lead to potential misdiagnosis and inappropriate treatment. Biomarkers play a crucial role in improving the accuracy of MSA diagnosis, and phosphorylated α-synuclein (p-syn) has emerged as a promising biomarker for aiding in diagnosis and disease monitoring.MethodsA literature search was conducted on PubMed, Scopus, and Google Scholar using specific keywords and MeSH terms without imposing a time limit. Inclusion criteria comprised various study designs including experimental studies, case-control studies, and cohort studies published only in English, while conference abstracts and unpublished sources were excluded.ResultsIncreased levels of p-syn have been observed in various samples from MSA patients, such as red blood cells, cerebrospinal fluid, oral mucosal cells, skin, and colon biopsies, highlighting their diagnostic potential. The α-Syn RT-QuIC assay has shown sensitivity in diagnosing MSA and tracking its progression. Meta-analyses and multicenter investigations have confirmed the diagnostic value of p-syn in cerebrospinal fluid, demonstrating high specificity and sensitivity in distinguishing MSA from other neurodegenerative diseases. Moreover, combining p-syn with other biomarkers has further improved the diagnostic accuracy of MSA.ConclusionThe p-syn stands out as a promising biomarker for MSA. It is found in oligodendrocytes and shows a correlation with disease severity and progression. However, further research and validation studies are necessary to establish p-syn as a reliable biomarker for MSA. If proven, p-syn could significantly contribute to early diagnosis, disease monitoring, and assessing treatment response.
AB - IntroductionMultiple system atrophy (MSA) is a rapidly progressive neurodegenerative disorder characterized by the presence of glial cytoplasmic inclusions (GCIs) containing aggregated α-synuclein (α-Syn). Accurate diagnosis and monitoring of MSA present significant challenges, which can lead to potential misdiagnosis and inappropriate treatment. Biomarkers play a crucial role in improving the accuracy of MSA diagnosis, and phosphorylated α-synuclein (p-syn) has emerged as a promising biomarker for aiding in diagnosis and disease monitoring.MethodsA literature search was conducted on PubMed, Scopus, and Google Scholar using specific keywords and MeSH terms without imposing a time limit. Inclusion criteria comprised various study designs including experimental studies, case-control studies, and cohort studies published only in English, while conference abstracts and unpublished sources were excluded.ResultsIncreased levels of p-syn have been observed in various samples from MSA patients, such as red blood cells, cerebrospinal fluid, oral mucosal cells, skin, and colon biopsies, highlighting their diagnostic potential. The α-Syn RT-QuIC assay has shown sensitivity in diagnosing MSA and tracking its progression. Meta-analyses and multicenter investigations have confirmed the diagnostic value of p-syn in cerebrospinal fluid, demonstrating high specificity and sensitivity in distinguishing MSA from other neurodegenerative diseases. Moreover, combining p-syn with other biomarkers has further improved the diagnostic accuracy of MSA.ConclusionThe p-syn stands out as a promising biomarker for MSA. It is found in oligodendrocytes and shows a correlation with disease severity and progression. However, further research and validation studies are necessary to establish p-syn as a reliable biomarker for MSA. If proven, p-syn could significantly contribute to early diagnosis, disease monitoring, and assessing treatment response.
KW - Diagnosis
KW - Biomarker
KW - Multiple System Atrophy
KW - Phosphorylated Α‐synuclein
KW - Brain
KW - Humans
KW - Case-Control Studies
KW - alpha-Synuclein
KW - Multicenter Studies as Topic
KW - Biomarkers
U2 - 10.1111/cns.14678
DO - 10.1111/cns.14678
M3 - Article
SN - 1755-5930
VL - 30
JO - CNS Neuroscience & Therapeutics
JF - CNS Neuroscience & Therapeutics
IS - 4
M1 - e14678
ER -