Research & Literature

Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.

Balint B, Bhatia KP

European journal of neurology 2015; (22(4)):610-7 doi:10.1111/ene.12650.

Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia.

Brüggemann N, Kühn A, Schneider SA, et al.

Neurology 2015; (84(9)):895-903 doi:10.1212/WNL.0000000000001312.

Childhood dystonias.

Tabbal SD

Current treatment options in neurology 2015; (17(3)):339 doi:10.1007/s11940-015-0339-4.

Medication use in childhood dystonia.

Lumsden DE, Kaminska M, Tomlin S, Lin JP

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2016; (20(4)):625-9.

Complications of Deep Brain Stimulation (DBS) for dystonia in children - The challenges and 10 year experience in a large paediatric cohort.

Kaminska M, Perides S, Lumsden DE, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2017; (21(1)):168-175 doi:10.1016/j.ejpn.2016.07.024.

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.

Zech M, Boesch S, Jochim A, et al.

Movement disorders : official journal of the Movement Disorder Society 2017; (32(4)):549-559 doi:10.1002/mds.26808.

Tor1a+/- mice develop dystonia-like movements via a striatal dopaminergic dysregulation triggered by peripheral nerve injury.

Ip CW, Isaias IU, Kusche-Tekin BB, et al.

Acta neuropathologica communications 2016; (4(1)):108 doi:10.1186/s40478-016-0375-7.

l-Dopa in dystonia: A modern perspective.

Maas RPPWM, Wassenberg T, Lin JP, et al.

Neurology 2017; (88(19)):1865-1871 doi:10.1212/WNL.0000000000003897.

Dystonic storm: a practical clinical and video review.

Termsarasab P, Frucht SJ

Journal of clinical movement disorders 2017; (4()):10 doi:10.1186/s40734-017-0057-z.

KMT2B rare missense variants in generalized dystonia.

Zech M, Jech R, Havránková P, et al.

Movement disorders : official journal of the Movement Disorder Society 2017; (32(7)):1087-1091 doi:10.1002/mds.27026.

Clinical Management of Dystonia in Childhood.

Luc QN, Querubin J

Paediatric drugs 2017; (19(5)):447-461 doi:10.1007/s40272-017-0243-3.

Causes of failure of pallidal deep brain stimulation in cases with pre-operative diagnosis of isolated dystonia.

Pauls KAM, Krauss JK, Kämpfer CE, et al.

Parkinsonism & related disorders 2017; (43()):38-48 doi:10.1016/j.parkreldis.2017.06.023.

Postoperative lead migration in deep brain stimulation surgery: Incidence, risk factors, and clinical impact.

Morishita T, Hilliard JD, Okun MS, et al.

PloS one 2017; (12(9)):e0183711 doi:10.1371/journal.pone.0183711.

Status dystonicus in childhood.

Lumsden DE, King MD, Allen NM

Current opinion in pediatrics 2017; (29(6)):674-682 doi:10.1097/MOP.0000000000000556.

Pharmacological and neurosurgical interventions for managing dystonia in cerebral palsy: a systematic review.

Fehlings D, Brown L, Harvey A, et al.

Developmental medicine and child neurology 2018; (60(4)):356-366 doi:10.1111/dmcn.13652.

Trihexyphenidyl for dystonia in cerebral palsy.

Harvey AR, Baker LB, Reddihough DS, et al.

The Cochrane database of systematic reviews 2018; (5()):CD012430 doi:10.1002/14651858.CD012430.pub2.

Deep brain stimulation for pediatric dystonia: a meta-analysis with individual participant data.

Elkaim LM, Alotaibi NM, Sigal A, et al.

Developmental medicine and child neurology 2019; (61(1)):49-56 doi:10.1111/dmcn.14063.

Botulinum Neurotoxin Therapy for Lingual Dystonia Using an Individualized Injection Method Based on Clinical Features.

Yoshida K

Toxins 2019; (11(1)) doi:10.3390/toxins11010051.

Adverse events associated with deep brain stimulation in patients with childhood-onset dystonia.

Koy A, Bockhorn N, Kühn AA, et al.

Brain stimulation 2019; (12(5)):1111-1120 doi:10.1016/j.brs.2019.04.003.

Update on current and emerging therapies for dystonia.

Lizarraga KJ, Al-Shorafat D, Fox S

Neurodegenerative disease management 2019; (9(3)):135-147 doi:10.2217/nmt-2018-0047.

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.

Carecchio M, Invernizzi F, Gonzàlez-Latapi P, et al.

Movement disorders : official journal of the Movement Disorder Society 2019; (34(10)):1516-1527 doi:10.1002/mds.27771.

Clinical phenotypes associated with outcomes following deep brain stimulation for childhood dystonia.

Badhiwala JH, Karmur B, Elkaim LM, et al.

Journal of neurosurgery. Pediatrics 2019; (24(4)):442-450 doi:10.3171/2019.5.PEDS1973.

Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.

Park J, Damrauer SM, Baras A, et al.

Neurology. Genetics 2019; (5(5)):e358 doi:10.1212/NXG.0000000000000358.

Update on KMT2B-Related Dystonia.

Zech M, Lam DD, Winkelmann J

Current neurology and neuroscience reports 2019; (19(11)):92 doi:10.1007/s11910-019-1007-y.

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.

Chen Y, Bao X, Wen Y, et al.

Frontiers in pediatrics 2020; (8()):83 doi:10.3389/fped.2020.00083.

TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models.

Li J, Liang CC, Pappas SS, Dauer WT

eLife 2020; (9()).

Increased diagnostic yield in complex dystonia through exome sequencing.

Wirth T, Tranchant C, Drouot N, et al.

Parkinsonism & related disorders 2020; (74()):50-56 doi:10.1016/j.parkreldis.2020.04.003.

A pragmatic approach to Botulinum Toxin safety.

Vova JA, Leung E

Journal of pediatric rehabilitation medicine 2020; (13(2)):195-199 doi:10.3233/PRM-200716.

Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency: Three cases report and literature review.

Dong HY, Feng JY, Yue XJ, et al.

Medicine 2020; (99(33)):e21753 doi:10.1097/MD.0000000000021753.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Cif L, Demailly D, Lin JP, et al.

Brain : a journal of neurology 2020; (143(11)):3242-3261 doi:10.1093/brain/awaa304.

Isolated dystonia: clinical and genetic updates.

Domingo A, Yadav R, Ozelius LJ

Journal of neural transmission (Vienna, Austria : 1996) 2021; (128(4)):405-416 doi:10.1007/s00702-020-02268-x.

Atypical presentations of DYT1 dystonia with acute craniocervical onset.

Pavelekova P, Jech R, Zech M, et al.

Parkinsonism & related disorders 2021; (83()):54-55 doi:10.1016/j.parkreldis.2020.12.019.

Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.

Lange LM, Junker J, Loens S, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(5)):1086-1103 doi:10.1002/mds.28485.

Monozygotic twins with DYT-TOR1A showing jerking movements and levodopa responsiveness.

Hanaoka Y, Akiyama T, Yoshinaga H, et al.

Brain & development 2021; (43(7)):783-788 doi:10.1016/j.braindev.2021.03.005.

Using both electromyography and movement disorder assessment improved the classification of children with dyskinetic cerebral palsy.

Lorentzen J, Born AP, Svane C, et al.

Acta paediatrica (Oslo, Norway : 1992) 2022; (111(2)):323-335 doi:10.1111/apa.16152.

Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.

Weissbach A, Pauly MG, Herzog R, et al.

Movement disorders : official journal of the Movement Disorder Society 2022; (37(2)):237-252 doi:10.1002/mds.28874.

Possible EIF2AK2-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.

Waller SE, Morales-Briceño H, Williams L, et al.

Movement disorders clinical practice 2022; (9(2)):240-244 doi:10.1002/mdc3.13384.

Status Dystonicus in Children: A Cross-Sectional Study and Review of Literature.

Saini AG, Hassan I, Sharma K, et al.

Journal of child neurology 2022; (37(6)):441-450 doi:10.1177/08830738221081593.

Long-Term Outcomes of Deep Brain Stimulation for Pediatric Dystonia.

Malatt C, Tagliati M

Pediatric neurosurgery 2022; (57(4)):225-237 doi:10.1159/000524577.

Case Report: Dystonic Storm Following Japanese Encephalitis Virus Infection.

Ghosh R, Dubey S, Das S, Benito-León J

The American journal of tropical medicine and hygiene 2022; (107(3)):557-559 doi:10.4269/ajtmh.22-0020.

Patient selection and injection techniques for botulinum neurotoxin in oromandibular dystonia.

Bhidayasiri R, Maytharakcheep S, Truong DD

Clinical parkinsonism & related disorders 2022; (7()):100160 doi:10.1016/j.prdoa.2022.100160.

Deep Brain Stimulation for Pediatric Dystonia: A Review of the Literature and Suggested Programming Algorithm.

Gelineau-Morel R, Kruer MC, Garris JF, et al.

Journal of child neurology 2022; (37(10-11)):813-824 doi:10.1177/08830738221115248.

Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases.

Garofalo M, Beudel M, Dijk JM, et al.

Neuropediatrics 2023; (54(1)):44-52 doi:10.1055/a-1959-9088.

Trihexyphenidyl in young children with dystonic cerebral palsy: A single arm study.

Rajkumar L, Ventatakrishnan A, Sairam S, et al.

Journal of pediatric rehabilitation medicine 2023; (16(1)):115-124 doi:10.3233/PRM-210087.

An antibiotic envelope to reduce infections in deep brain stimulation surgery.

Primalani N, Lan LC, Ang SYL, et al.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2023; (107()):162-166 doi:10.1016/j.jocn.2022.10.031.

A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up.

Dy Closas AMF, Lohmann K, Tan AH, et al.

Journal of movement disorders 2023; (16(1)):91-94 doi:10.14802/jmd.22109.

Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements.

Rauschenberger L, Krenig EM, Stengl A, et al.

Neurobiology of disease 2023; (179()):106056 doi:10.1016/j.nbd.2023.106056.

Child Neurology: KMT2B-Related Dystonia in a Young Child With Worsening Gait Abnormality.

Schuberth K, Ramani PK, Beemarajan E, Veerapandiyan A

Neurology 2023; (101(7)):328-332 doi:10.1212/WNL.0000000000207300.

GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature.

Chudy D, Raguž M, Vuletić V, et al.

Frontiers in neurology 2023; (14()):1151900 doi:10.3389/fneur.2023.1151900.

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.

Santos M, Massano J, Lopes AM, et al.

Neurogenetics 2023; (24(3)):215-218 doi:10.1007/s10048-023-00720-0.

Multiple motor disorders in cerebral palsy.

Dar H, Stewart K, McIntyre S, Paget S

Developmental medicine and child neurology 2024; (66(3)):317-325 doi:10.1111/dmcn.15730.

Upper Extremity Dystonia Features in People With Spastic Cerebral Palsy.

Gilbert LA, Gandham S, Ueda K, et al.

Neurology. Clinical practice 2023; (13(6)):e200207 doi:10.1212/CPJ.0000000000200207.

Deep Brain Stimulation for GNAO1-Associated Dystonia: A Systematic Review and Meta-Analysis.

Decraene B, Smeets S, Remans D, et al.

Neuromodulation : journal of the International Neuromodulation Society 2024; (27(3)):440-446 doi:10.1016/j.neurom.2023.10.187.

Levodopa for Dystonia in Children: A Case Series and Review of the Literature.

DeArias AL, Bamford NS

Pediatric neurology 2024; (152()):16-19 doi:10.1016/j.pediatrneurol.2023.12.012.

Physician Approaches to the Pharmacologic Treatment of Dystonia in Cerebral Palsy.

Lott E, Fehlings D, Gelineau-Morel R, et al.

medRxiv : the preprint server for health sciences 2024; doi:10.1101/2024.02.01.24302121.

Gene-environment interaction elicits dystonia-like features and impaired translational regulation in a DYT-TOR1A mouse model.

Reinhold C, Knorr S, McFleder RL, et al.

Neurobiology of disease 2024; (193()):106453 doi:10.1016/j.nbd.2024.106453.

Long-Term Globus Pallidus Internus Deep Brain Stimulation in Pediatric Non-Degenerative Dystonia: A Cohort Study and a Meta-Analysis.

Duga V, Giossi R, Romito LM, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(7)):1131-1144 doi:10.1002/mds.29815.

Fifteen-minute consultation: Management of acute dystonia exacerbation and status dystonicus.

Lumsden DE

Archives of disease in childhood. Education and practice edition 2025; (110(1)):8-14 doi:10.1136/archdischild-2023-326814.

Evolving understanding of CP phenotypes: the importance of dystonia.

Lewis SA, Aravamuthan B, Fehlings D, Kruer MC

Pediatric research 2024; doi:10.1038/s41390-024-03327-9.

Copper Conundrum: Navigating Atypical Wilson's Disease Through Radiological Insights.

Nimodia D, Parihar P, Gupta RG, et al.

Cureus 2024; (16(7)):e65203 doi:10.7759/cureus.65203.

Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool.

da Silva Carvalho GF, de Gusmão CM, Wolff BM, et al.

Clinical epigenetics 2024; (16(1)):169 doi:10.1186/s13148-024-01780-1.

Treatment with OnabotulinumtoxinA for Oromandibular Dystonia: A Systematic Review and Meta-Analysis.

Yoshida K, Kaji R

Toxins 2024; (16(12)) doi:10.3390/toxins16120546.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Cif L, Demailly D, Lin JP, et al.

ArXiv 2025;.

Clinical Presentation of KMT2B-Related Dystonia: A Case Report.

Onoprishvili E, Khelaia L, Bedoshvili A, et al.

Cureus 2025; (17(3)):e81454 doi:10.7759/cureus.81454.

Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.

Fang S, Clayton PT, Garg D, et al.

Journal of inherited metabolic disease 2025; (48(3)):e70031 doi:10.1002/jimd.70031.

Definition and Classification of Dystonia.

Albanese A, Bhatia KP, Fung VSC, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(7)):1248-1259 doi:10.1002/mds.30220.

Generalized dystonia unraveled: Molecular mechanisms, diagnostic strategies, and treatment paradigms.

Yarahmadi F, Shoiebi A, Shariati M, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(11)):5657-5669 doi:10.1007/s10072-025-08404-3.

Refractory "status dyskineticus" in a child with post-herpes simplex virus 1 N-methyl-D-aspartate receptor encephalitis: a case report.

Santagostino Barbone A, De Grandis E, Giacomini T, et al.

BMC neurology 2025; (25(1)):368 doi:10.1186/s12883-025-04346-7.

Parkinsonism-Hyperpyrexia Syndrome Following Deep Brain Stimulation Battery Depletion during the COVID-19 Pandemic: A Case Series and Review of the Literature.

Habibi SAH, Eissazade N, Lotfi T, et al.

Movement disorders clinical practice 2025; doi:10.1002/mdc3.70320.

Surgical Complications of Deep Brain Stimulation in Children Across Targets and Indications: Multicenter Analysis of the CHILD-DBS Registry.

Balachandar A, Verhey LH, Mithani K, et al.

Neurology 2025; (105(9)):e214201 doi:10.1212/WNL.0000000000214201.

Nocturnal Ballistic Bouts in ADCY5-Related Movement Disorder.

Nair BS, Maramattom BV

Cureus 2026; (18(1)):e101726 doi:10.7759/cureus.101726.

KMT2B-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation.

Indelicato E, Siegert S, Langer A, et al.

Frontiers in neurology 2026; (17()):1727854 doi:10.3389/fneur.2026.1727854.

Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Disorder: An International Multicenter Experience.

Bernardi K, Rong J, Northam WT, et al.

Annals of neurology 2026; doi:10.1002/ana.78310.

Child Neurology: Early-Onset, Rapidly Progressive, and Refractory DYT-TOR1A Status Dystonicus.

Ressler HW, Somerville M, Hite A, et al.

Neurology 2026; (107(4)):e214878 doi:10.1212/WNL.0000000000214878.

Status Dystonicus: An Updated Review on Diagnosis, Pathophysiology, and Management.

Desai VN, Garg A, Bhattacharya A, et al.

Annals of Indian Academy of Neurology 2026; (29(4)):501-509 doi:10.4103/aian.aian_1122_25.

Botulinum Toxin in Children and Adolescents-A Comprehensive Review of Clinical Applications.

Bašković M, Nikić Čižmek V, Buzuk J, et al.

Toxins 2026; (18(9)) doi:10.3390/toxins18090360.