The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum

Johanna R Roller, Ashraf Yahia, Giovanni Stevanin, Ammar E Ahmed, Amna M T Alawadhi, Mohammed Almannai, Maryam Y Busehail, Alexander H Choi, Ali A Elhassan, Liena E O Elsayed, Christina Goode, Lauren H Hammer, Christina Laukaitis, Amber Begtrup, Rachel A Paul, Jasmin Roohi, Hoda Y Tomoum, Peter Bauer, Ludger Schöls, Jorge P Basto, Matthis Synofzik, Holger Hengel
Brain. 2026-01-02; 149(4): e36-e38
DOI: 10.1093/brain/awaf482

1. Brain. 2026 Apr 7;149(4):e36-e38. doi: 10.1093/brain/awaf482.

The RAB3A hot spot variant R83W causes spasticity as part of the
ataxia-spasticity spectrum.

Roller JR(1)(2), Yahia A(3)(4), Stevanin G(5), Ahmed AE(6), Alawadhi AMT(7),
Almannai M(8)(9), Busehail MY(10), Choi AH(11), Elhassan AA(12), Elsayed
LEO(13), Goode C(14), Hammer LH(15), Laukaitis C(14)(16), Begtrup A(17), Paul
RA(15), Roohi J(18), Tomoum HY(19), Bauer P(20)(21)(22), Schöls L(1)(2), Basto
JP(21), Synofzik M(1)(2), Hengel H(1)(2).

Author information:
(1)Department of Neurodegenerative Diseases, Center of Neurology and
Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen
72076, Germany.
(2)German Center of Neurodegenerative Diseases (DZNE) Tübingen 72076, Germany.
(3)Department of Biochemistry, Faculty of Medicine, University of Khartoum,
Khartoum 11115, Sudan.
(4)Neurology, Department of Clinical Sciences Lund, Lund University, Skåne
University Hospital, Lund 222 42, Sweden.
(5)Reference Center for Rare Diseases «Neurogenetics», Department of Medical
Genetics, Bordeaux University Hospital, and Univ. Bordeaux, CNRS, INCIA, UMR
5287, EPHE, NRGenTeam, Bordeaux 33076, France.
(6)Department of Physiology, Faculty of Medicine, University of Khartoum,
Khartoum 11115, Sudan.
(7)Department of Genetics, Salmaniya Medical Complex, Manama 323, Kingdom of
Bahrain.
(8)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, Saudi Arabia.
(9)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, Saudi Arabia.
(10)Department of Medical Genetics, Governmental Hospitals, Manama 323, Kingdom
of Bahrain.
(11)Department of Neurology, Mid-Atlantic Permanente Medical Group Washington
D.C. 20002, USA.
(12)Sudan Neuroscience Projects, University of Khartoum, Khartoum 11115, Sudan.
(13)Department of Basic Sciences, College of Medicine, Princess Nourah bint
Abdulrahman University, Riyadh 11564, Saudi Arabia.
(14)Carle Health, Urbana, IL 61801, USA.
(15)Department of Neurology, Perelman School of Medicine at the University of
Pennsylvania, Philadelphia, PA 19104, USA.
(16)Institute for Genomic Biology and Carle Illinois College of Medicine,
University of Illinois, Urbana, IL 61801, USA.
(17)GeneDx, LLC, Gaithersburg, MD 20877, USA.
(18)Department of Genetics, Mid-Atlantic Permanente Medical Group, Washington
D.C. 20002, USA.
(19)Department of Pediatrics, Ain Shams University, Cairo 11566, Egypt.
(20)Institute of Medical Genetics and Applied Genomics, University of Tübingen,
Tübingen 72076, Germany.
(21)Centogene GmbH Rostock 18055, Germany.
(22)Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian
Medical University, Szczecin 70-204, Poland.