Effective August 1, 2024, this database was discontinued. All content will remain searchable and be preserved online for historical purposes only until 2029.
Multiple System Atrophy
What's New
Last Posted: Sep 23, 2024
- Clonal hematopoiesis with DNMT3A mutations is associated with multiple system atrophy.
Seungmin Lee, et al. Parkinsonism & related disorders 2024 0 107145 - Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
Xu-Ying Li, et al. European journal of neurology 2024 0 e16441 - Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Kenta Orimo, et al. Journal of human genetics 2024 0 - Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.
Annalisa Schaub, et al. Journal of neurology 2024 0 - Genome sequence analyses identify novel risk loci for multiple system atrophy.
Ruth Chia, et al. Neuron 2024 0 - Incidence of different pressure patterns of spinal cerebellar ataxia and analysis of imaging and genetic diagnosis.
Yufen Peng, et al. Open life sciences 2023 0 (1) 20220762 - Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation.
Tommaso Carrer, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 0 - The molecular spectrum of amyloid-beta (A?) in neurodegenerative diseases beyond Alzheimer's disease.
Shojiro Ichimata, et al. Brain pathology (Zurich, Switzerland) 2023 0 e13210 - Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.
Yasuo Nakahara, et al. medRxiv : the preprint server for health sciences 2023 0 - Frequency of GBA variants in autopsy-proven multiple system atrophy.
Sklerov Miriam, et al. Movement disorders clinical practice 2017 0 (4) 574-581 - Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
Giordano Ilaria, et al. Neurology 2017 0 (10) 1043-1049 - COQ2 variants in Parkinson's disease and multiple system atrophy.
Mikasa Michitaka, et al. Journal of neural transmission (Vienna, Austria : 1996) 2018 0 (6) 937-944 - Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients.
Mongelli Alessia, et al. Neuroscience letters 2018 0 37-42 - Somatic copy number gains of ?-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains.
Mokretar Katya, et al. Brain : a journal of neurology 2018 0 (8) 2419-2431 - Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome.
Jabbari Edwin, et al. JAMA neurology 2019 0 (3) 377-387 - Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson's disease.
Foti Sandrine C, et al. Scientific reports 2019 0 (1) 6559 - Coexisting Lewy body disease and clinical parkinsonism in frontotemporal lobar degeneration.
Forrest Shelley L, et al. Neurology 2019 0 (21) e2472-e2482 - Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.
Wilke Matheus V M B, et al. Orphanet journal of rare diseases 2019 0 (1) 103 - Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study.
Avenali Micol, et al. Journal of neurology, neurosurgery, and psychiatry 2019 0 (10) 1091-1097 - Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.
Ozaki Kokoro, et al. Parkinsonism & related disorders 2019 0 238-242 - Screening for Niemann-Pick type C disease in neurodegenerative diseases.
Boenzi Sara, et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 0 266-267 - Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy.
Wan Linlin, et al. Annals of neurology 2020 0 (6) 1132-1143 - Contribution of Five Functional Loci of Dopamine Metabolism-Related Genes to Parkinson's Disease and Multiple System Atrophy in a Chinese Population.
Chen Yongping, et al. Frontiers in neuroscience 2020 0 889 - Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease.
Leija-Salazar Melissa, et al. Frontiers in neurology 2020 0 570424 - Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease.
Shadrin Alexey A, et al. Movement disorders : official journal of the Movement Disorder Society 2020 0 (2) 449-459 - Intrafamilial phenotypic variation in spinocerebellar ataxia type 23.
Satoh Shunichi, et al. Cerebellum & ataxias 2020 0 7 - Laryngeal Movement Disorders in Multiple System Atrophy: A Diagnostic Biomarker?
Gandor Florin, et al. Movement disorders : official journal of the Movement Disorder Society 2020 0 (12) 2174-2183 - Clinicopathologic and genetic features of multiple system atrophy with Lewy body disease.
Koga Shunsuke, et al. Brain pathology (Zurich, Switzerland) 2020 0 (4) 766-778 - Shared Metabolic Profile of Caffeine in Parkinsonian Disorders.
Takeshige-Amano Haruka, et al. Movement disorders : official journal of the Movement Disorder Society 2020 0 (8) 1438-1447 - COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population.
Porto Kristine Joyce, et al. Journal of the neurological sciences 2021 0 117623
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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