Brahim Tabarki1, Majid Alfadhel2, Saad AlShahwan3, Khaled Hundallah3, Shatha AlShafi3, Amel AlHashem4. 1. Divisions of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Electronic address: btabarki@hotmail.com. 2. Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia. 3. Divisions of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. 4. Divisions of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Abstract
OBJECTIVE: To compare the combination of biotin plus thiamine to thiamine alone in treating patients with biotin-responsive basal ganglia disease in an open-label prospective, comparative study. METHODS: twenty patients with genetically proven biotin-responsive basal ganglia disease were enrolled, and received for at least 30 months a combination of biotin plus thiamine or thiamine alone. The outcome measures included duration of the crisis, number of recurrence/admissions, the last neurological examination, the severity of dystonia using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), and the brain MRI findings during the crisis and after 30 months of follow-up. RESULTS: Ten children with a mean age of 6 years(1/2) were recruited in the biotin plus thiamine group (group 1) and ten children (6 females and 4 males) with a mean age of 6 years and 2 months were recruited in the thiamine group (group 2). After 2 years of follow-up treatment, 6 of 20 children achieved complete remission, 10 had minimal sequelae in the form of mild dystonia and dysarthria (improvement of the BFMDRS, mean: 80%), and 4 had severe neurologic sequelae. All these 4 patients had delayed diagnosis and management. Regarding outcome measures, both groups have a similar outcome regarding the number of recurrences, the neurologic sequelae (mean BFMDS score between the groups, p = 0.84), and the brain MRI findings. The only difference was the duration of the acute crisis: group 1 had faster recovery (2 days), versus 3 days in group 2 (p = 0.005). CONCLUSION: Our study suggests that over 30 months of treatment, the combination of biotin plus thiamine is not superior to thiamine alone in the treatment of biotin-responsive basal ganglia disease.
OBJECTIVE: To compare the combination of biotin plus thiamine to thiamine alone in treating patients with biotin-responsive basal ganglia disease in an open-label prospective, comparative study. METHODS: twenty patients with genetically proven biotin-responsive basal ganglia disease were enrolled, and received for at least 30 months a combination of biotin plus thiamine or thiamine alone. The outcome measures included duration of the crisis, number of recurrence/admissions, the last neurological examination, the severity of dystonia using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS), and the brain MRI findings during the crisis and after 30 months of follow-up. RESULTS: Ten children with a mean age of 6 years(1/2) were recruited in the biotin plus thiamine group (group 1) and ten children (6 females and 4 males) with a mean age of 6 years and 2 months were recruited in the thiamine group (group 2). After 2 years of follow-up treatment, 6 of 20 children achieved complete remission, 10 had minimal sequelae in the form of mild dystonia and dysarthria (improvement of the BFMDRS, mean: 80%), and 4 had severe neurologic sequelae. All these 4 patients had delayed diagnosis and management. Regarding outcome measures, both groups have a similar outcome regarding the number of recurrences, the neurologic sequelae (mean BFMDS score between the groups, p = 0.84), and the brain MRI findings. The only difference was the duration of the acute crisis: group 1 had faster recovery (2 days), versus 3 days in group 2 (p = 0.005). CONCLUSION: Our study suggests that over 30 months of treatment, the combination of biotin plus thiamine is not superior to thiamine alone in the treatment of biotin-responsive basal ganglia disease.
Authors: H A Jinnah; Alberto Albanese; Kailash P Bhatia; Francisco Cardoso; Gustavo Da Prat; Tom J de Koning; Alberto J Espay; Victor Fung; Pedro J Garcia-Ruiz; Oscar Gershanik; Joseph Jankovic; Ryuji Kaji; Katya Kotschet; Connie Marras; Janis M Miyasaki; Francesca Morgante; Alexander Munchau; Pramod Kumar Pal; Maria C Rodriguez Oroz; Mayela Rodríguez-Violante; Ludger Schöls; Maria Stamelou; Marina Tijssen; Claudia Uribe Roca; Andres de la Cerda; Emilia M Gatto Journal: Mov Disord Date: 2017-09-01 Impact factor: 10.338
Authors: Irene Flønes; Paweł Sztromwasser; Kristoffer Haugarvoll; Christian Dölle; Maria Lykouri; Thomas Schwarzlmüller; Inge Jonassen; Hrvoje Miletic; Stefan Johansson; Per M Knappskog; Laurence A Bindoff; Charalampos Tzoulis Journal: PLoS One Date: 2016-02-10 Impact factor: 3.240
Authors: Whitney Whitford; Isobel Hawkins; Emma Glamuzina; Francessa Wilson; Andrew Marshall; Fern Ashton; Donald R Love; Juliet Taylor; Rosamund Hill; Klaus Lehnert; Russell G Snell; Jessie C Jacobsen Journal: Cold Spring Harb Mol Case Stud Date: 2017-11-21