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A Brief History of NBIA Gene Discovery
Susan J. Hayflick
J Mov Disord. 2023;16(2):133-137.   Published online April 26, 2023
  • 2,421 View
  • 181 Download
  • 1 Web of Science
  • 2 Crossref
AbstractAbstract PDF
Neurodegenerative disorders associated with high basal ganglia iron are known by the overarching term of ‘NBIA’ disorders or ‘neurodegeneration with brain iron accumulation’. Discovery of their individual genetic bases was greatly enabled by the collection of DNA and clinical data in just a few centers. With each discovery, the remaining idiopathic disorders could be further stratified by common clinical, radiographic or pathological features to enable the next hunt. This iterative process, along with strong and open collaborations, enabled the discoveries of PANK2, PLA2G6, C19orf12, FA2H, WDR45, and COASY gene mutations as underlying PKAN, PLAN, MPAN, FAHN, BPAN, and CoPAN, respectively. The era of Mendelian disease gene discovery is largely behind us, but the history of these discoveries for the NBIA disorders has not yet been told. A brief history is offered here.


Citations to this article as recorded by  
  • Mitochondrial iron deficiency triggers cytosolic iron overload in PKAN hiPS-derived astrocytes
    Paolo Santambrogio, Anna Cozzi, Chiara Balestrucci, Maddalena Ripamonti, Valeria Berno, Eugenia Cammarota, Andrea Stefano Moro, Sonia Levi
    Cell Death & Disease.2024;[Epub]     CrossRef
  • COASY Protein-Associated Neurodegeneration: Report from India
    Rohan R. Mahale, Raviprakash Singh, Pavankumar Katragadda, Hansashree Padmanabha
    Annals of Indian Academy of Neurology.2023; 26(5): 834.     CrossRef
Current Status and Future Perspectives on Stem Cell-Based Therapies for Parkinson’s Disease
Young Cha, Tae-Yoon Park, Pierre Leblanc, Kwang-Soo Kim
J Mov Disord. 2023;16(1):22-41.   Published online January 12, 2023
  • 7,788 View
  • 513 Download
  • 13 Web of Science
  • 11 Crossref
AbstractAbstract PDF
Parkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease, affecting 1%–2% of the population over the age of 65. As the population ages, it is anticipated that the burden on society will significantly escalate. Although symptom reduction by currently available pharmacological and/or surgical treatments improves the quality of life of many PD patients, there are no treatments that can slow down, halt, or reverse disease progression. Because the loss of a specific cell type, midbrain dopamine neurons in the substantia nigra, is the main cause of motor dysfunction in PD, it is considered a promising target for cell replacement therapy. Indeed, numerous preclinical and clinical studies using fetal cell transplantation have provided proof of concept that cell replacement therapy may be a viable therapeutic approach for PD. However, the use of human fetal cells remains fraught with controversy due to fundamental ethical, practical, and clinical limitations. Groundbreaking work on human pluripotent stem cells (hPSCs), including human embryonic stem cells and human induced pluripotent stem cells, coupled with extensive basic research in the stem cell field offers promising potential for hPSC-based cell replacement to become a realistic treatment regimen for PD once several major issues can be successfully addressed. In this review, we will discuss the prospects and challenges of hPSC-based cell therapy for PD.


Citations to this article as recorded by  
  • RNA-based controllers for engineering gene and cell therapies
    Kei Takahashi, Kate E Galloway
    Current Opinion in Biotechnology.2024; 85: 103026.     CrossRef
  • Precision Medicine in Parkinson's Disease Using Induced Pluripotent Stem Cells
    Min Seong Kim, Hyesoo Kim, Gabsang Lee
    Advanced Healthcare Materials.2024;[Epub]     CrossRef
  • A recent update on drugs and alternative approaches for parkinsonism
    Sneha Kispotta, Debajyoti Das, Shakti Ketan Prusty
    Neuropeptides.2024; 104: 102415.     CrossRef
  • Recent Research Trends in Neuroinflammatory and Neurodegenerative Disorders
    Jessica Cohen, Annette Mathew, Kirk D. Dourvetakis, Estella Sanchez-Guerrero, Rajendra P. Pangeni, Narasimman Gurusamy, Kristina K. Aenlle, Geeta Ravindran, Assma Twahir, Dylan Isler, Sara Rukmini Sosa-Garcia, Axel Llizo, Alison C. Bested, Theoharis C. Th
    Cells.2024; 13(6): 511.     CrossRef
  • Continuous immunosuppression is required for suppressing immune responses to xenografts in non-human primate brains
    Su Feng, Ting Zhang, Zhengxiao He, Wenchang Zhang, Yingying Chen, Chunmei Yue, Naihe Jing
    Cell Regeneration.2024;[Epub]     CrossRef
  • The role of neuroinflammation in neurodegenerative diseases: current understanding and future therapeutic targets
    Alhamdu Adamu, Shuo Li, Fankai Gao, Guofang Xue
    Frontiers in Aging Neuroscience.2024;[Epub]     CrossRef
  • Past, present, and future of cell replacement therapy for parkinson’s disease: a novel emphasis on host immune responses
    Tae-Yoon Park, Jeha Jeon, Young Cha, Kwang-Soo Kim
    Cell Research.2024; 34(7): 479.     CrossRef
  • Dopamine synthesis and transport: current and novel therapeutics for parkinsonisms
    Mary Dayne Sia Tai, Gloria Gamiz-Arco, Aurora Martinez
    Biochemical Society Transactions.2024; 52(3): 1275.     CrossRef
  • Potential for Therapeutic-Loaded Exosomes to Ameliorate the Pathogenic Effects of α-Synuclein in Parkinson’s Disease
    David J. Rademacher
    Biomedicines.2023; 11(4): 1187.     CrossRef
  • Neural Stem Cell Therapies: Promising Treatments for Neurodegenerative Diseases
    Amir Gholamzad, Hadis Sadeghi, Maryam Azizabadi Farahani, Ali Faraji, Mahya Rostami, Sajad Khonche, Shirin Kamrani, Mahsa Khatibi, Omid Moeini, Seyed Armit Hosseini, Mohammadmatin Nourikhani, Mehrdad Gholamzad
    Neurology Letters.2023; 2(2): 55.     CrossRef
  • Should continuous dopaminergic stimulation be a standard of care in advanced Parkinson’s disease?
    Z. Pirtošek, V. Leta, P. Jenner, M. Vérin
    Journal of Neural Transmission.2023; 130(11): 1395.     CrossRef
Original Article
Clinical Milestones Preceding the Diagnosis of Multiple System Atrophy and Progressive Supranuclear Palsy: A Retrospective Cohort Study
Louise Wiblin, Rory Durcan, Brook Galna, Mark Lee, David Burn
J Mov Disord. 2019;12(3):177-183.   Published online August 9, 2019
  • 7,870 View
  • 218 Download
  • 4 Web of Science
  • 6 Crossref
AbstractAbstract PDF
Multiple System Atrophy (MSA) and progressive supranuclear palsy (PSP) are rapidly progressive forms of degenerative Parkinsonism. The difficulties of diagnosing MSA and PSP in their early stages may lead to delayed referral to appropriate specialists and distress to patients, as well as delaying symptomatic treatment and participation in clinical trials. This work aimed to describe the symptoms that patients with MSA and PSP developed and plot their emergence relative to final diagnosis using a median onset in months.
Forty-seven patients from the United Kingdom with MSA or PSP diagnosed by a movement disorder specialist were interviewed with carers or relatives to establish milestone onset. This was corroborated using clinical notes and letters.
In the MSA cohort (n = 23), autonomic symptoms (median 5.5 months before diagnosis) and falls (median 1 month before diagnosis) were the two clinical milestones which occurred before diagnosis. In the PSP cohort (n = 24), falling was the only milestone which occurred before diagnosis (median of 18.5 months).
This Study Shows That Psp Patients Experience Falling More Than A Year And A Half An Average Before Receiving A Diagnosis And Although Msa Patients Also Tended To Fall, This Was Much Closer To The Time Of Diagnosis. Further Work With Larger Cohorts May Illustrate Whether These Preliminary Findings Can Be Generalised To Guide Diagnosis And Management.


Citations to this article as recorded by  
  • Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada
    Ella Nysetvold, Lauren N. Lopez, Ashley N. Cogell, Henrik Fryk, Nelson D. Pace, Sara Snell Taylor, Joyce Rhoden, Caitlin A. Nichols, Demetris Pillas, Alexander Klein, Teresa Gasalla, Anna Scowcroft
    Orphanet Journal of Rare Diseases.2024;[Epub]     CrossRef
  • Clinical milestones as triggers for palliative care intervention in progressive Supranuclear palsy and multiple system atrophy
    Robin Bessemer, Alla Iansavichene, Mary E. Jenkins, Elizabeth Finger, Teneille E. Gofton
    Journal of the Neurological Sciences.2023; 448: 120614.     CrossRef
  • Toward More Accessible Fully Automated 3D Volumetric MRI Decision Trees for the Differential Diagnosis of Multiple System Atrophy, Related Disorders, and Age-Matched Healthy Subjects
    Jisoo Kim, Geoffrey S. Young, Andrew S. Willett, Ariana T. Pitaro, Grace F. Crotty, Merlyne Mesidor, Kristie A. Jones, Camden Bay, Min Zhang, Mel B. Feany, Xiaoyin Xu, Lei Qin, Vikram Khurana
    The Cerebellum.2022; 22(6): 1098.     CrossRef
  • Disease course and treatment patterns in progressive supranuclear palsy: A real-world study
    John C. Morgan, Xiaolan Ye, Jennifer A. Mellor, Keisha J. Golden, Jorge Zamudio, Louis A. Chiodo, Yanjun Bao, Tao Xie
    Journal of the Neurological Sciences.2021; 421: 117293.     CrossRef
  • Patient and care partner views on exercise and structured physical activity for people with Progressive Supranuclear Palsy
    Susan C. Slade, Christopher Bruce, Jennifer L. McGinley, Bastiaan R. Bloem, Meg E. Morris, John Duda
    PLOS ONE.2020; 15(6): e0234265.     CrossRef
  • Effect of cold oral stimulation on orthostatic hypotension in multiple system atrophy: a case study
    Hironobu Uzawa, Shinta Takeuchi, Yusuke Nishida
    Journal of Physical Therapy Science.2020; 32(7): 473.     CrossRef

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