ArticleAnnals of clinical and translational neurology2015
Variants associated with Gaucher disease in multiple system atrophy.
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Article in Annals of clinical and translational neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis that pooled it.
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60citing papers in PubMed, 1 pooled it
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Who cites it
60 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.
- Gaucher: A Systematic Review on Oral and Radiological Aspects.Medicina (Kaunas, Lithuania) · 2023Pooled it
- Multiple system atrophy: cure and care.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Review
- Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population.European journal of human genetics : EJHG · 2025Article
- Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.Journal of human genetics · 2024Article
- Gaucher disease provides a unique window into Parkinson disease pathogenesis.Nature reviews. Neurology · 2024Review
- FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients.Journal of neurology · 2024Article
- Multiple system atrophy: an update and emerging directions of biomarkers and clinical trials.Journal of neurology · 2024Review
- Identification of metabolic pathways and key genes associated with atypical parkinsonism using a systems biology approach.Metabolic brain disease · 2024Article
- Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease.Cerebellum (London, England) · 2024Article
- Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease.Journal of movement disorders · 2023Article
- Mechanisms of Glucocerebrosidase Dysfunction in Parkinson's Disease.Journal of molecular biology · 2023Review
- Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.International journal of molecular sciences · 2023Review
- The genetic basis of multiple system atrophy.Journal of translational medicine · 2023Review
- Review
- Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism.International journal of molecular sciences · 2022Review
- Multiple system atrophy variant with severe hippocampal pathology.Brain pathology (Zurich, Switzerland) · 2022Article
- Neuropathology and molecular diagnosis of Synucleinopathies.Molecular neurodegeneration · 2021Review
- A historical review of multiple system atrophy with a critical appraisal of cellular and animal models.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
71 authors at 20 institutions in 6 countries.
Jun MitsuiDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
Takashi MatsukawaDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
Hidenao SasakiDepartment of Neurology, Hokkaido University Graduate School of Medicine Sapporo, Japan.
Ichiro YabeDepartment of Neurology, Hokkaido University Graduate School of Medicine Sapporo, Japan.
Masaaki MatsushimaDepartment of Neurology, Hokkaido University Graduate School of Medicine Sapporo, Japan.
Alexandra DürrAP-HP, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Inserm, U 1127, Cnrs, UMR 7225, 3- Sorbonne Université, UPMC Univ Paris 06, UM 75, ICM F-75013, Paris, France.
Alexis BriceAP-HP, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Inserm, U 1127, Cnrs, UMR 7225, 3- Sorbonne Université, UPMC Univ Paris 06, UM 75, ICM F-75013, Paris, France.
Hiroshi TakashimaDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima, Japan.
Akio KikuchiDepartment of Neurology, Tohoku University School of Medicine Sendai, Japan.
Masashi AokiDepartment of Neurology, Tohoku University School of Medicine Sendai, Japan.
Hiroyuki IshiuraDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
Tsutomu YasudaDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
Hidetoshi DateDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
Budrul AhsanDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
Atsushi IwataDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
Jun GotoDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
Yaeko IchikawaDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
Yasuo NakaharaDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
Yoshio MomoseDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
Yuji TakahashiDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
Kenju HaraDepartment of Neurology, Brain Research Institute, Niigata University Niigata, Japan.
Akiyoshi KakitaDepartment of Pathology, Brain Research Institute, Niigata University Niigata, Japan.
Mitsunori YamadaDepartment of Pathology, Brain Research Institute, Niigata University Niigata, Japan ; Department of Clinical Research, Saigata Medical Center, National Hospital Organization Niigata, Japan.
Hitoshi TakahashiDepartment of Pathology, Brain Research Institute, Niigata University Niigata, Japan.
Osamu OnoderaDepartment of Neurology, Brain Research Institute, Niigata University Niigata, Japan.
Masatoyo NishizawaDepartment of Neurology, Brain Research Institute, Niigata University Niigata, Japan.
Hirohisa WatanabeDepartment of Neurology, Nagoya University Graduate School of Medicine Nagoya, Japan.
Mizuki ItoDepartment of Neurology, Nagoya University Graduate School of Medicine Nagoya, Japan.
Gen SobueDepartment of Neurology, Nagoya University Graduate School of Medicine Nagoya, Japan.
Kinya IshikawaDepartment of Neurology and Neurological Science, Graduate School of Medical and Dental Science, Tokyo Medical and Dental University Tokyo, Japan.
Hidehiro MizusawaDepartment of Neurology and Neurological Science, Graduate School of Medical and Dental Science, Tokyo Medical and Dental University Tokyo, Japan.
Kazuaki KanaiDepartment of Neurology, Chiba University School of Medicine Chiba, Japan.
Takamichi HattoriDepartment of Neurology, Chiba University School of Medicine Chiba, Japan.
Satoshi KuwabaraDepartment of Neurology, Chiba University School of Medicine Chiba, Japan.
Kimihito AraiDivision of Neurology, National Hospital Organization, Chiba East Hospital Chiba, Japan.
Shigeru KoyanoDepartment of Clinical Neurology and Stroke Medicine, Graduate School of Medicine, Yokohama City University Yokohama, Japan.
Yoshiyuki KuroiwaDepartment of Neurology, Teikyo University School of Medicine University Hospital Mizonokuchi, Kawasaki, Japan.
Kazuko HasegawaDivision of Neurology, National Hospital Organization, Sagamihara National Hospital Sagamihara, Japan.
Tatsuhiko YuasaDepartment of Neurology, Kamagaya-Chiba Medical Center for Intractable Neurological Disease, Kamagaya General Hospital Chiba, Japan.
Kenichi YasuiDivision of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University Yonago, Japan.
Kenji NakashimaDivision of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University Yonago, Japan.
Hijiri ItoDepartment of Neurology, Mifukai Vihara Hananosato Hospital Hiroshima, Japan.
Yuishin IzumiDepartment of Clinical Neuroscience, Institute of Health Biosciences, University of Tokushima Graduate School Tokushima, Japan.
Ryuji KajiDepartment of Clinical Neuroscience, Institute of Health Biosciences, University of Tokushima Graduate School Tokushima, Japan.
Takeo KatoDepartments of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Faculty of Medicine, Yamagata University Yamagata, Japan.
Susumu KusunokiDepartment of Neurology, Kinki University School of Medicine Osaka, Japan.
Yasushi OsakiDepartment of Geriatrics, Cardiology and Neurology, Kochi Medical School Nankoku, Japan.
Masahiro HoriuchiDivision of Neurology, Department of Internal Medicine, St. Marianna University School of Medicine Kawasaki, Japan.
Tomoyoshi KondoDepartment of Neurology, Wakayama Medical University Wakayama, Japan.
Shigeo MurayamaDepartment of Neuropathology and the Brain Bank for Aging Research, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology Tokyo, Japan.
Nobutaka HattoriDepartment of Neurology, Juntendo University School of Medicine Tokyo, Japan.
Mitsutoshi YamamotoDepartment of Neurology, Kagawa Prefectural Central Hospital Takamatsu, Japan.
Miho MurataDepartment of Neurology, National Center Hospital of Neurology and Psychiatry Tokyo, Japan.
Wataru SatakeDivision of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine Kobe, Japan.
Tatsushi TodaDivision of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine Kobe, Japan.
Alessandro FillaDepartment of Neurological Sciences, University Federico II Naples, Italy.
Thomas KlockgetherDepartment of Neurology, University of Bonn and German Center for Neurodegenerative Diseases (DZNE) Bonn, Germany.
Ullrich WüllnerDepartment of Neurology, University of Bonn and German Center for Neurodegenerative Diseases (DZNE) Bonn, Germany.
Garth NicholsonConcord Hospital, University of Sydney at the Australian and New Zealand Army Corps (ANZAC) Research Institute Sydney, Australia.
Sid GilmanDepartment of Neurology, University of Michigan Ann Arbor, Michigan.
Caroline M TannerParkinson's Disease Research Education and Clinical Center, San Francisco Veteran's Affairs Medical Center San Francisco, California.
Walter A KukullDepartment of Epidemiology, University of Washington School of Public Health Seattle, Washington.
Mathew B SternParkinson's Disease and Movement Disorders Center, Department of Neurology, Perelman School of Medicine at the University of Pennsylvania Philadelphia, Pennsylvania.
Virginia M-Y LeeInstitute on Aging, Udall Parkinson's Research Center, Center for Neurodegenerative Disease Research and the Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania Philadelphia, Pennsylvania.
John Q TrojanowskiInstitute on Aging, Udall Parkinson's Research Center, Center for Neurodegenerative Disease Research and the Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania Philadelphia, Pennsylvania.
Eliezer MasliahDepartment of Neurosciences, University of California San Diego San Diego, California.
Phillip A LowDepartment of Neurology, Mayo Clinic Rochester, Minnesota.
Paola SandroniDepartment of Neurology, Mayo Clinic Rochester, Minnesota.
Laurie J OzeliusDepartments of Genetics and Genomic Sciences and Neurology, Icahn School of Medicine at Mount Sinai New York, New York.
Tatiana ForoudDepartment of Medical and Molecular Genetics, Indiana University School of Medicine Indianapolis, Indiana.
Shoji TsujiDepartment of Neurology, Graduate School of Medicine, University of Tokyo Tokyo, Japan.
The University of Tokyo · JPNiigata University · JPChiba University · JPHokkaido University · JPNagoya University · JPUniversity of Pennsylvania · USKobe University · JPMayo Clinic · USTohoku University · JPTokushima University · JPTokyo Medical and Dental University · JPTottori University · JPUniversity of Bonn · DEAnzac Research Institute · AUChiba East Hospital · JPFederico II University Hospital · ITIcahn School of Medicine at Mount Sinai · USIndiana University – Purdue University Indianapolis · USInserm · FRJuntendo University · JP
Funding
NATIONAL ALZHEIMERS COORDINATING CENTER (NACC)U01AG016976 · NIA · UNIVERSITY OF WASHINGTON · PI KUKULL, WALTER ANTHONY · 1999 to 2020
$72.8MVIRUS-INDUCED BRAIN PATHOLOGYP50AG005131 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BREWER, JAMES B · 1985 to 2018
$55.4MProject IV: "Alpha-Synuclein Strains & Diverse Synucleinopathies"P50NS053488 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI TROJANOWSKI, JOHN Q. · 2007 to 2017
$20.9MStudies on Diagnosis, Pathophysiology, and Treatment of Autonomic Failure in MSAP01NS044233 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI LOW, PHILLIP A · 2003 to 2014
$12.4MNIA NIH HHS P50 AG005131NIA NIH HHS U01 AG016976NINDS NIH HHS P01 NS044233NINDS NIH HHS P50 NS053488
Abstract
objectiveGlucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). To investigate the role of GBA variants in multiple system atrophy (MSA), we analyzed GBA variants in a large case-control series.
methodsWe sequenced coding regions and flanking splice sites of GBA in 969 MSA patients (574 Japanese, 223 European, and 172 North American) and 1509 control subjects (900 Japanese, 315 European, and 294 North American). We focused solely on Gaucher-disease-causing GBA variants.
resultsIn the Japanese series, we found nine carriers among the MSA patients (1.65%) and eight carriers among the control subjects (0.89%). In the European series, we found three carriers among the MSA patients (1.35%) and two carriers among the control subjects (0.63%). In the North American series, we found five carriers among the MSA patients (2.91%) and one carrier among the control subjects (0.34%). Subjecting each series to a Mantel-Haenszel analysis yielded a pooled odds ratio (OR) of 2.44 (95% confidence interval [CI], 1.14-5.21) and a P-value of 0.029 without evidence of significant heterogeneity. Logistic regression analysis yielded similar results, with an adjusted OR of 2.43 (95% CI 1.15-5.37) and a P-value of 0.022. Subtype analysis showed that Gaucher-disease-causing GBA variants are significantly associated with MSA cerebellar subtype (MSA-C) patients (P = 7.3 × 10(-3)).
interpretationThe findings indicate that, as in PD and DLB, Gaucher-disease-causing GBA variants are associated with MSA.
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