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Case Report
Expanding the Clinical Spectrum of RFC1 Gene Mutations
Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog
J Mov Disord. 2022;15(2):167-170.   Published online March 22, 2022
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  • 228 Download
  • 1 Web of Science
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
Biallelic intronic repeat expansion in the replication factor complex unit 1 (RFC1) gene has recently been described as a cause of late onset ataxia with degeneration of the cerebellum, sensory pathways and the vestibular apparatus. This condition is termed cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). Since the identification of this novel gene mutation, the phenotypic spectrum of RFC1 mutations continues to expand and includes not only CANVAS but also slowly progressive cerebellar ataxia, ataxia with chronic cough (ACC), isolated sensory neuropathy and multisystemic diseases. We present a patient with a genetically confirmed intronic repeat expansion in the RFC1 gene with a symptom complex not described previously.


Citations to this article as recorded by  
  • Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
    Ilaria Quartesan, Elisa Vegezzi, Riccardo Currò, Amanda Heslegrave, Chiara Pisciotta, Pablo Iruzubieta, Alessandro Salvalaggio, Gorka Fernández‐Eulate, Natalia Dominik, Bianca Rugginini, Arianna Manini, Elena Abati, Stefano Facchini, Katarina Manso, Ines
    Movement Disorders.2024; 39(1): 209.     CrossRef
Review Article
Manganese and Movement Disorders: A Review
Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog
J Mov Disord. 2021;14(2):93-102.   Published online April 6, 2021
  • 11,358 View
  • 548 Download
  • 19 Web of Science
  • 19 Crossref
AbstractAbstract PDF
Scientific and technological advances achieved with industrial expansion have led to an ever-increasing demand for heavy metals. This demand has, in turn, led to increased contamination of soil, water and air with these metals. Chronic exposure to metals may be detrimental not only to occupational workers but also to the nonoccupational population exposed to these metals. Manganese (Mn), a commonly used heavy metal, is an essential cofactor for many enzymatic processes that drive biological functions. However, it is also a potential source of neurotoxicity, particularly in the field of movement disorders. The typical manifestation of Mn overexposure is parkinsonism, which may be difficult to differentiate from the more common idiopathic Parkinson’s disease. In addition to environmental exposure to Mn, other potential etiologies causing hypermanganesemia include systemic health conditions, total parenteral nutrition and genetic mutations causing Mn dyshomeostasis. In this review, we critically analyze Mn and discuss its sources of exposure, pathophysiology and clinical manifestations. We have highlighted the global public health impact of Mn and emphasize that movement disorder specialists should record a detailed social and occupational history to ensure that a toxic etiology is not misdiagnosed as a neurodegenerative disease. In the absence of a definite therapeutic option, early diagnosis and timely institution of preventive measures are the keys to managing its toxic effects.


Citations to this article as recorded by  
  • The cGAS−STING-mediated ROS and ferroptosis are involved in manganese neurotoxicity
    Zhimin Zhang, Jirui Yang, Qiongli Zhou, Shiyin Zhong, Jingjing Liu, Xin Zhang, Xuhong Chang, Hui Wang
    Journal of Environmental Sciences.2025; 152: 71.     CrossRef
  • Investigation of Heavy Metal Analysis on Medicinal Plants Used for the Treatment of Skin Cancer by Traditional Practitioners in Pretoria
    Oluwaseun Mary Oladeji, Boikanyo Genneyrolter Kopaopa, Liziwe Lizbeth Mugivhisa, Joshua Oluwole Olowoyo
    Biological Trace Element Research.2024; 202(2): 778.     CrossRef
  • Neuroprotective Strategies and Cell-Based Biomarkers for Manganese-Induced Toxicity in Human Neuroblastoma (SH-SY5Y) Cells
    Catherine M. Cahill, Sanjan S. Sarang, Rachit Bakshi, Ning Xia, Debomoy K. Lahiri, Jack T. Rogers
    Biomolecules.2024; 14(6): 647.     CrossRef
  • Update: Protective and risk factors for Parkinson disease
    Nikolas Grotewold, Roger L. Albin
    Parkinsonism & Related Disorders.2024; 125: 107026.     CrossRef
  • The Regulation of ZIP8 by Dietary Manganese in Mice
    Suetmui Yu, Ningning Zhao
    International Journal of Molecular Sciences.2023; 24(6): 5962.     CrossRef
  • Manganese Neurotoxicity as a Stroke Mimic: A Case Report
    Mohiudeen Alikunju, Nafeesathu Misiriyyah , Shaikh Sayeed Iqbal, Maria Khan
    Cureus.2023;[Epub]     CrossRef
  • Associations of ambient manganese exposure with brain gray matter thickness and white matter hyperintensities
    Shinyoung Woo, Young Noh, Sang-Baek Koh, Seung-Koo Lee, Jung il Lee, Ho Hyun Kim, Sun- Young Kim, Jaelim Cho, Changsoo Kim
    Hypertension Research.2023; 46(8): 1870.     CrossRef
  • Manganese overexposure induces Parkinson-like symptoms, altered lipid signature and oxidative stress in C57BL/6 J mouse
    Muxue Lu, Ping Deng, Lingling Yang, Xue Wang, Xiang Mei, Chao Zhou, Mengyan Chen, Zhou Zhou, Huifeng Pi, Lichuan Wu, Zhengping Yu
    Ecotoxicology and Environmental Safety.2023; 263: 115238.     CrossRef
  • The Role of Oxidative Stress in Manganese Neurotoxicity: A Literature Review Focused on Contributions Made by Professor Michael Aschner
    David C. Dorman
    Biomolecules.2023; 13(8): 1176.     CrossRef
  • Small noncoding RNA dysregulation is implicated in manganism in a rat model of methylcyclopentadienyl manganese tricarbonyl-induced unrepaired striatum damage
    Qifeng Zhu, Fan Jiang, Yuanbo Song, Lili Lu, Fajian He, Shuqi Huang, Zhaoying Huang, Jing Yao, Ningning Lei, Jianmin Huang, Shijin Lu
    The Journal of Toxicological Sciences.2023; 48(10): 535.     CrossRef
  • Differentiating Wild and Apiary Honey by Elemental Profiling: a Case Study from Mangroves of Indian Sundarban
    Tanushree Gaine, Praveen Tudu, Somdeep Ghosh, Shouvik Mahanty, Madhurima Bakshi, Nabanita Naskar, Souparna Chakrabarty, Subarna Bhattacharya, Swati Gupta Bhattacharya, Kashinath Bhattacharya, Punarbasu Chaudhuri
    Biological Trace Element Research.2022; 200(10): 4550.     CrossRef
  • Environmental Impact on the Epigenetic Mechanisms Underlying Parkinson’s Disease Pathogenesis: A Narrative Review
    Efthalia Angelopoulou, Yam Nath Paudel, Sokratis G. Papageorgiou, Christina Piperi
    Brain Sciences.2022; 12(2): 175.     CrossRef
  • Ayahuasca as a Decoction Applied to Human: Analytical Methods, Pharmacology and Potential Toxic Effects
    Ľuboš Nižnanský, Žofia Nižnanská, Roman Kuruc, Andrea Szórádová, Ján Šikuta, Anežka Zummerová
    Journal of Clinical Medicine.2022; 11(4): 1147.     CrossRef
  • Can therapeutic plasma exchange be life-saving in life-threatening manganese intoxication?
    Emel Uyar, Esra Gurkas, Aysel Unlusoy Aksu, Serhat Emeksiz, Cigdem Seher Kasapkara, Nadide Basak Gulleroglu, Ikbal Ok Bozkaya, Kader Karlı Oguz
    Transfusion and Apheresis Science.2022; 61(4): 103417.     CrossRef
  • Manganese‐induced parkinsonism responsive to intranasal insulin: A case report
    Mehri Salari, Masoud Etemadifar, Leila Dargahi, Neda Valian, Malihe Rezaee
    Clinical Case Reports.2022;[Epub]     CrossRef
  • The potential convergence of NLRP3 inflammasome, potassium, and dopamine mechanisms in Parkinson’s disease
    Adrianne F. Pike, Ildikò Szabò, Robert Veerhuis, Luigi Bubacco
    npj Parkinson's Disease.2022;[Epub]     CrossRef
  • Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 Gene
    Jae-Hyeok Lee, Jin-Hong Shin
    Journal of Movement Disorders.2022; 15(2): 171.     CrossRef
  • Manganese chloride (MnCl2) induced novel model of Parkinson’s disease in adult Zebrafish; Involvement of oxidative stress, neuroinflammation and apoptosis pathway
    Abhishek.P.R. Nadig, Bader Huwaimel, Ahmed Alobaida, El-Sayed Khafagy, Hadil Faris Alotaibi, Afrasim Moin, Amr Selim Abu Lila, Suman, Sahyadri. M, K.L. Krishna
    Biomedicine & Pharmacotherapy.2022; 155: 113697.     CrossRef
  • Çalışma Yaşamında Manganez Maruz Kalımının Sağlık Etkileri ve Parkinsonizm
    Zehra GÖK METİN, Abdulsamet SANDAL, Ali Naci YILDIZ
    Karaelmas İş Sağlığı ve Güvenliği Dergisi.2021; 5(2): 147.     CrossRef

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