Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis

Autor: Hashemian, Somayyeh, Eshraghi, Peyman, Dilaver, Nafi, Galehdari, Hamid, Shalbafan, Bita, Vakili, Rahim, Ghaemi, Nosrat, Ahangari, Najmeh, Rezazadeh Varaghchi, Jamileh, Zeighami, Jawaher, Sedaghat, Alireza, Aminzadeh, Majid, Hamid, Mohammad, Saberi, Alihossein, Ashtari, Fereshteh, Ghayoor Karimiani, Ehsan, Shariati, Gholamreza

Publikováno v: Iranian Journal of Child Neurology

Objectives: Niemann-Pick diseases (NPD) is an autosomal recessive inherited lysosomal lipid storage disorder which occurs due to a defect in cellular cholesterol trafficking, leading to excess lipid accumulation in multiple organ systems such as the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::133572029df9f05fd1be412a6fa23eab
http://europepmc.org/articles/PMC6451857

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Autor: Wiessner M; Friedrich-Baur-Institute, Department of Neurology, LMU Munich, Munich, Germany., Maroofian R; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK., Ni MY; Department of Biochemistry, National Defense Medical Center, Neihu, Taipei, Taiwan., Pedroni A; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden., Müller JS; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Stucka R; Friedrich-Baur-Institute, Department of Neurology, LMU Munich, Munich, Germany., Beetz C; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Efthymiou S; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK., Santorelli FM; Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Pisa, Italy., Alfares AA; Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia., Zhu C; Henan Key Laboratory of Child Brain Injury, Institute of Neuroscience and Third Affliated Hospital of Zhengzhou University, Zhengzhou, China.; Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Göteborg, Sweden.; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Uhrova Meszarosova A; DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Alehabib E; Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital and University of Arizona College of Medicine, Phoenix, USA., Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Otero MG; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, USA., Chen JYH; Neurology Department, Massachusetts General Hospital, Boston, USA., Peterson JT; Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, USA., Strom TM; Institute of Human Genetics, Technische Universität Mänchen, Munich, Germany., De Jonghe P; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerpen, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium., Deconinck T; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerpen, Belgium., De Ridder W; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerpen, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium., De Winter J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerpen, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium., Pasquariello R; Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Pisa, Italy., Ricca I; Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Pisa, Italy., Alfadhel M; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands., Portier R; Polikliniek Neurologie Enschede, Medisch Spectrum Twente, Enschede, The Netherlands., Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.; Department of Medicine, Nephrology, University Hospital Freiburg, Germany., Ghasemi Firouzabadi S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, USA., Bilguvar K; Department of Genetics, Yale University School of Medicine, New Haven, USA.; Yale Center for Genome Analysis, Yale University, New Haven, USA., Hamed S; Department of Neurology and Psychiatry, Assiut University Hospital, Assiut, Egypt., Abdelhameed M; Department of Neurology and Psychiatry, Assiut University Hospital, Assiut, Egypt., Haridy NA; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.; Department of Neurology and Psychiatry, Assiut University Hospital, Assiut, Egypt., Maqbool S; Development and Behavioural Paediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan., Rahman F; Development and Behavioural Paediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan., Anwar N; Development and Behavioural Paediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan., Carmichael J; Oxford Regional Clinical Genetics Service, Northampton General Hospital, Northampton, UK., Pagnamenta A; NIHR Oxford BRC, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Wood NW; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.; The National Hospital for Neurology and Neurosurgery, London, UK., Tran Mau-Them F; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France., Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Di Rocco M; Rare Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ceccherini I; Genetics and Genomics of Rare Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy., Salpietro V; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Pediatric Neurology and Neuromuscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Pediatric Neurology and Neuromuscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Rusmini M; Genetics and Genomics of Rare Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Xu Y; Henan Key Laboratory of Child Brain Injury, Institute of Neuroscience and Third Affliated Hospital of Zhengzhou University, Zhengzhou, China., Wang Y; Department of Pediatrics, The First Affiliated Hospital of Henan University of Chinese Medicine, Zhengzhou, China., Suzuki Y; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Osaka, Japan., Koh K; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan., Nan H; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan., Ishiura H; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Tsuji S; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan., Lambert L; Department of Clinical Genetics, CHRU Nancy, UMR_S INSERM N-GERE 1256, Université de Lorraine - Faculté de Médecine, Nancy, France., Schmitt E; Department of Neuroradiology, CHRU Nancy, Nancy, France., Lacaze E; Department of Medical Genetics, Le Havre Hospital, Le Havre, France., Küpper H; Department of Pediatric Neurology, University Children's Hospital Tübingen, Tübingen, Germany., Dredge D; Neurology Department, Massachusetts General Hospital, Boston, USA., Skraban C; Roberts Individualized Medical Genetics Center, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA., Goldstein A; Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA., Willis MJH; Department of Pediatrics, Naval Medical Center San Diego, San Diego, USA., Grand K; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, USA., Graham JM; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, USA., Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, USA., Millan F; GeneDx, Gaithersburg, USA., Duman Ö; Department of Pediatric Neurology, Akdeniz University Hospital, Antalya, Turkey., Dündar N; Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, Turkey., Uyanik G; Center for Medical Genetics, Hanusch Hospital, Vienna, Austria.; Medical School, Sigmund Freud Private University, Vienna, Austria., Schöls L; Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Nürnberg P; Cologne Center for Genomics, Faculty of Medicine and Cologne University Hospital, University of Cologne, Cologne, Germany., Nürnberg G; Cologne Center for Genomics, Faculty of Medicine and Cologne University Hospital, University of Cologne, Cologne, Germany., Catala Bordes A; DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Seeman P; DNA Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Kuchar M; Department of Paediatric Neurology, Liberec Hospital, Liberec, Czech Republic., Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran., Rebelo A; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA., Bouçanova F; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Medard JJ; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Chrast R; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Auer-Grumbach M; Department of Orthopaedics and Traumatology, Medical University of Vienna, Vienna, Austria., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shamseldin H; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al Tala S; Department of Pediatrics, Genetic Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia., Rezazadeh Varaghchi J; Hasti Genetic Counseling Center of Welfare Organization of Southern Khorasan, Birjand, Iran., Najafi M; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Deschner S; genetikum, Center for Human Genetics, Neu-Ulm, Germany., Gläser D; genetikum, Center for Human Genetics, Neu-Ulm, Germany., Hüttel W; Institut für Pharmazeutische Wissenschaften, Albert-Ludwigs-Universität Freiburg, Freibug, Germany., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital and University of Arizona College of Medicine, Phoenix, USA., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Takiyama Y; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan., Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, USA., Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerpen, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium., Synofzik M; Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Schüle R; Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Houlden H; Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK., Bartesaghi L; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden., Lee HJ; Department of Biochemistry, National Defense Medical Center, Neihu, Taipei, Taiwan., Ampatzis K; Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden., Pierson TM; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, USA.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, USA.; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, USA.; Center for the Undiagnosed Patient, Cedars-Sinai Medical Center, Los Angeles, USA., Senderek J; Friedrich-Baur-Institute, Department of Neurology, LMU Munich, Munich, Germany.

Publikováno v: Brain : a journal of neurology [Brain] 2021 Jun 22; Vol. 144 (5), pp. 1422-1434.