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Review Article
Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution
Priya Jagota, Yoshikazu Ugawa, Zakiyah Aldaajani, Norlinah Mohamed Ibrahim, Hiroyuki Ishiura, Yoshiko Nomura, Shoji Tsuji, Cid Diesta, Nobutaka Hattori, Osamu Onodera, Saeed Bohlega, Amir Al-Din, Shen-Yang Lim, Jee-Young Lee, Beomseok Jeon, Pramod Kumar Pal, Huifang Shang, Shinsuke Fujioka, Prashanth Lingappa Kukkle, Onanong Phokaewvarangkul, Chin-Hsien Lin, Cholpon Shambetova, Roongroj Bhidayasiri
J Mov Disord. 2023;16(3):231-247.   Published online June 13, 2023
DOI: https://doi.org/10.14802/jmd.23065
  • 3,429 View
  • 245 Download
AbstractAbstract PDFSupplementary Material
Clinical case studies and reporting are important to the discovery of new disorders and the advancement of medical sciences. Both clinicians and basic scientists play equally important roles leading to treatment discoveries for both cures and symptoms. In the field of movement disorders, exceptional observation of patients from clinicians is imperative, not just for phenomenology but also for the variable occurrences of these disorders, along with other signs and symptoms, throughout the day and the disease course. The Movement Disorders in Asia Task Force (TF) was formed to help enhance and promote collaboration and research on movement disorders within the region. As a start, the TF has reviewed the original studies of the movement disorders that were preliminarily described in the region. These include nine disorders that were first described in Asia: Segawa disease, PARK-Parkin, X-linked dystonia-parkinsonism, dentatorubral-pallidoluysian atrophy, Woodhouse-Sakati syndrome, benign adult familial myoclonic epilepsy, Kufor-Rakeb disease, tremulous dystonia associated with mutation of the calmodulin-binding transcription activator 2 gene, and paroxysmal kinesigenic dyskinesia. We hope that the information provided will honor the original researchers and help us learn and understand how earlier neurologists and basic scientists together discovered new disorders and made advances in the field, which impact us all to this day.
Case Report
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
Olfa Hdiji, Emna Turki, Nouha Bouzidi, Imen Bouchhima, Mariem Damak, Saeed Bohlega, Chokri Mhiri
J Mov Disord. 2016;9(2):120-123.   Published online May 25, 2016
DOI: https://doi.org/10.14802/jmd.16003
  • 13,932 View
  • 111 Download
  • 11 Web of Science
  • 8 Crossref
AbstractAbstract PDF
Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.

Citations

Citations to this article as recorded by  
  • Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review
    Amira Kohil, Atiyeh M. Abdallah, Khalid Hussain, Mashael Al-Shafai
    Orphanet Journal of Rare Diseases.2023;[Epub]     CrossRef
  • The Successful Management of Primary Amenorrhea in Woodhouse–Sakati Syndrome: A Case Report and a Literature Review
    Hanadi Bakhsh, Norah Alqntash, Ebtesam Almajed
    Life.2023; 13(10): 2022.     CrossRef
  • Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review
    Rehab Ali, Nader Al‐Dewik, Shayma Mohammed, Mahmud Elfituri, Sahar Agouba, Sara Musa, Laila Mahmoud, Mariam Almulla, Karen El‐Akouri, Howaida Mohd, Reem Bux, Hajer Almulla, Amna Othman, Fatma Al‐Mesaifri, Noora Shahbeck, Mariam Al‐Muriekhi, Amal Khalifa,
    American Journal of Medical Genetics Part A.2022; 188(1): 116.     CrossRef
  • Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report
    Mohammed A Aljaffer, Ahmad H Almadani, Mohammad AlMutlaq, Abdulaziz Alhammad , Ahmed S Alyahya
    Cureus.2022;[Epub]     CrossRef
  • Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
    Guangmin Chen, Ling Zhou, Qimou Chen, Juan Wang, Peng Jiang, Rufei Shen, Min Long, Houdi Zhou
    Frontiers in Genetics.2021;[Epub]     CrossRef
  • Woodhouse–Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF 17 gene
    K. Shah, A. Jan, F. Ahmad, S. Basit, K. Ramzan, W. Ahmad
    Clinical and Experimental Dermatology.2020; 45(2): 159.     CrossRef
  • A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature
    Erdal Kurnaz, Ayberk Türkyılmaz, Oğuzhan Yaralı, Berrin Demir, Atilla Çayır
    Journal of Pediatric Endocrinology and Metabolism.2019; 32(11): 1287.     CrossRef
  • Brain MR Imaging Findings in Woodhouse-Sakati Syndrome
    A.H. Abusrair, S. Bohlega, A. Al-Semari, F.S. Al-Ajlan, K. Al-Ahmadi, B. Mohamed, A. AlDakheel
    American Journal of Neuroradiology.2018; 39(12): 2256.     CrossRef

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