The <i>RAB3A</i> hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum
Year: 2025
Type: article
Language: en
Topic: Genetic Neurodegenerative Diseases
Authors and affiliations:
raw_author_name: Johanna R Roller
raw_affiliation_strings: Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen , Tübingen 72076 ,
German Center of Neurodegenerative Diseases (DZNE)   Tübingen 72076 ,
raw_author_name: Ashraf Yahia
raw_affiliation_strings: Department of Biochemistry, Faculty of Medicine, University of Khartoum , Khartoum 11115 ,
Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital , Lund 222 42 ,
raw_author_name: Giovanni Stevanin
raw_affiliation_strings: Reference Center for Rare Diseases «Neurogenetics», Department of Medical Genetics, Bordeaux University Hospital, and Univ. Bordeaux, CNRS, INCIA, UMR 5287, EPHE, NRGenTeam , Bordeaux 33076 ,
raw_author_name: Ammar E Ahmed
raw_affiliation_strings: Department of Physiology, Faculty of Medicine, University of Khartoum , Khartoum 11115 ,
raw_author_name: Amna M T Alawadhi
raw_affiliation_strings: Department of Genetics, Salmaniya Medical Complex , Manama 323 ,
raw_author_name: Mohammed Almannai
raw_affiliation_strings: Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children’s Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA) , Riyadh 14611 ,
Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNG-HA) , 11426 Riyadh ,
raw_author_name: Maryam Y Busehail
raw_affiliation_strings: Department of Medical Genetics, Governmental Hospitals , Manama 323 ,
raw_author_name: Alexander H Choi
raw_affiliation_strings: Department of Neurology, Mid-Atlantic Permanente Medical Group   Washington D.C. 20002 ,
raw_author_name: Ali A Elhassan
raw_affiliation_strings: Sudan Neuroscience Projects, University of Khartoum , Khartoum 11115 ,
raw_author_name: Liena E O Elsayed
raw_affiliation_strings: Department of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University , Riyadh 11564 ,
raw_author_name: Christina Goode
raw_affiliation_strings: Carle Health , Urbana, IL 61801 ,
raw_author_name: Lauren H Hammer
raw_affiliation_strings: Department of Neurology, Perelman School of Medicine at the University of Pennsylvania , Philadelphia, PA 19104 ,
raw_author_name: Christina Laukaitis
raw_affiliation_strings: Carle Health , Urbana, IL 61801 ,
Institute for Genomic Biology and Carle Illinois College of Medicine, University of Illinois , Urbana, IL 61801 ,
raw_author_name: Amber Begtrup
raw_affiliation_strings: GeneDx, LLC , Gaithersburg, MD 20877 ,
raw_author_name: Rachel A Paul
raw_affiliation_strings: Department of Neurology, Perelman School of Medicine at the University of Pennsylvania , Philadelphia, PA 19104 ,
raw_author_name: Jasmin Roohi
raw_affiliation_strings: Department of Genetics, Mid-Atlantic Permanente Medical Group , Washington D.C. 20002 ,
raw_author_name: Hoda Y Tomoum
raw_affiliation_strings: Department of Pediatrics, Ain Shams University , Cairo 11566 ,
raw_author_name: Peter Bauer
raw_affiliation_strings: Centogene GmbH   Rostock 18055 ,
Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University , Szczecin 70-204 ,
Institute of Medical Genetics and Applied Genomics, University of Tübingen , Tübingen 72076 ,
raw_author_name: Ludger Schöls
raw_affiliation_strings: Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen , Tübingen 72076 ,
German Center of Neurodegenerative Diseases (DZNE)   Tübingen 72076 ,
raw_author_name: Jorge P Basto
raw_affiliation_strings: Centogene GmbH   Rostock 18055 ,
raw_author_name: Matthis Synofzik
raw_affiliation_strings: Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen , Tübingen 72076 ,
German Center of Neurodegenerative Diseases (DZNE)   Tübingen 72076 ,
raw_author_name: Holger Hengel
raw_affiliation_strings: Department of Neurodegenerative Diseases, Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen , Tübingen 72076 ,
German Center of Neurodegenerative Diseases (DZNE)   Tübingen 72076 ,