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Parkinsonism-dystonia-2: Case-series study from Saudi Arabia

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اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • Contributors:
      King Abdullah University for Science and Technology (KAUST) Thuwal Saudi Arabia; Biological and Environmental Science and Engineering (BESE) Division; College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) Riyadh Saudi Arabia; Division of Pediatric Neurology King Abdullah Specialist Children's Hospital (KASCH), National Guard Health Affairs (NGHA) Riyadh Saudi Arabia; King Abdullah International Medical Center (KAIMRC), Ministry of National Guard Riyadh Saudi Arabia; Department of Pediatrics King Fahad Medical City (KFMC) Riyadh Saudi Arabia; Department of Pediatrics, Faculty of Medicine King Abdulaziz University Jeddah Saudi Arabia; Department of Pediatric Neurology, Neuroscience Center King Fahad Specialist Hospital Dammam Saudi Arabia; Department of Pediatric, Medical Genetics Unit Qatif Central Hospital, Eastern Health Cluster, Ministry of Health Qatif Saudi Arabia; Department of Pediatric Neurology National Neuroscience Institute, King Fahad Medical City (KFMC) Riyadh Saudi Arabia; Women and Child Institute, John's Hopkins Aramco Healthcare (Jhah) Dhahran Saudi Arabia; John's Hopkins School of Medicine Baltimore USA
    • بيانات النشر:
      Wiley
    • الموضوع:
      2024
    • Collection:
      King Abdullah University of Science and Technology: KAUST Repository
    • نبذة مختصرة :
      Parkinsonism-dystonia-2 PKDYS2 is an autosomal-recessive disorder, caused by pathogenic biallelic variants in SLC18A2 which encodes the vesicular monoamine transporter (VMAT2) protein. PKDYS2 is a treatable neurotransmitter disease, and the rate of diagnosis of this disorder has increased significantly with the advance of genomic technologies. Our report highlights a novel pathologic variant in one case and a novel finding on MRI Brain, consisting of a normal symmetrical signal intensity in the dorsal brainstem and pons, and it substantiates the significance of genetic testing in the evaluation of children with developmental delays, which influences clinical decisions to enhance patient outcomes. ; None ; There is no funding source for this work, this is a clinical paper by the individual efforts of the physician.
    • File Description:
      application/pdf
    • ISSN:
      2328-9503
    • Relation:
      Annals of Clinical and Translational Neurology; http://hdl.handle.net/10754/697475
    • الرقم المعرف:
      10.1002/acn3.52020
    • Rights:
      Archived with thanks to Annals of Clinical and Translational Neurology under a Creative Commons license, details at: http://creativecommons.org/licenses/by-nc-nd/4.0/ ; http://creativecommons.org/licenses/by-nc-nd/4.0/
    • الرقم المعرف:
      edsbas.F6F1A9DF