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Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

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Title: Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Authors: Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Ortigoza-Escobar JD; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain., Stringer BW; Griffith Institute for Drug Discovery, Centre for Cellular Phenomics, School of Environment and Science Griffith University, Brisbane, Queensland, Australia., Ganieva M; Avicenna Tajik State Medical University, Department of Neurology and Medical Genetics, Dushanbe, Tajikistan., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Macaya A; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Laner A; MGZ - Medical Genetics Centre, Munich, Germany., Onbool E; Neurology department, King Abdulaziz Specialist Hospital, Skaka Aljouf, Saudi Arabia., Al-Shammari R; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Al-Owain M; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Deconinck N; Centre de Référence des Maladies Neuromusculaires et Service de Neurologie Pédiatrique, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium., Vilain C; Department of Genetics, Hôpital Universitaire Reine Fabiola (HUDERF); Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium., Dontaine P; Centre de Référence des Maladies Neuromusculaires et Service de Neurologie Pédiatrique, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium., Self E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Akram R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Neurochemical biology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan., Hussain G; Neurochemical biology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan., Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan., Iqbal J; Department of Neurology, Allied Hospital, Faisalabad Medical University, Faisalabad, Pakistan., Salpietro V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Neshatdoust M; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran., Kasiri M; School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran., Yesil G; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey., Uygur T; Department of Pediatric Neurology, Bezmialem Vakif University, İstanbul, Turkey., Pysden K; Paediatric Neurology Department, Leeds Teaching Hospitals, Leeds General Infirmary, Leeds, United Kingdom., Berry IR; Yorkshire and North East Genomic Laboratory Hub Central Laboratory, Leeds, United Kingdom., Alves CA; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Giacomotto J; Griffith Institute for Drug Discovery, Centre for Cellular Phenomics, School of Environment and Science Griffith University, Brisbane, Queensland, Australia.; Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jun; Vol. 39 (6), pp. 983-995. Date of Electronic Publication: 2024 Apr 06.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1531-8257
DOI:10.1002/mds.29754