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.

Brain Stimulation for Torsion Dystonia.

Fox MD, Alterman RL

JAMA neurology 2015; (72(6)):713-9 doi:10.1001/jamaneurol.2015.51.

Acute colonic pseudo-obstruction in a child taking trihexyphenidyl for drooling: Prescribers beware.

Begbie F, Walker G, Kubba H, Sabharwal A

International journal of pediatric otorhinolaryngology 2015; (79(6)):932-934 doi:10.1016/j.ijporl.2015.03.027.

Common therapeutic mechanisms of pallidal deep brain stimulation for hypo- and hyperkinetic movement disorders.

McCairn KW, Iriki A, Isoda M

Journal of neurophysiology 2015; (114(4)):2090-104 doi:10.1152/jn.00223.2015.

Intrathecal baclofen for treating spasticity in children with cerebral palsy.

Hasnat MJ, Rice JE

The Cochrane database of systematic reviews 2015; CD004552 doi:10.1002/14651858.CD004552.pub2.

Long-term results of deep brain stimulation in a cohort of eight children with isolated dystonia.

Krause P, Lauritsch K, Lipp A, et al.

Journal of neurology 2016; (263(11)):2319-2326 doi:10.1007/s00415-016-8253-6.

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.

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

Zech M, Boesch S, Maier EM, et al.

American journal of human genetics 2016; (99(6)):1377-1387 doi:10.1016/j.ajhg.2016.10.010.

Efficacy of pallidal stimulation in isolated dystonia: a systematic review and meta-analysis.

Moro E, LeReun C, Krauss JK, et al.

European journal of neurology 2017; (24(4)):552-560 doi:10.1111/ene.13255.

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.

Clinical Management of Dystonia in Childhood.

Luc QN, Querubin J

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

Safety and efficacy of high-dose enteral, intravenous, and transdermal clonidine for the acute management of severe intractable childhood dystonia and status dystonicus: An illustrative case-series.

Nakou V, Williamson K, Arichi T, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2017; (21(6)):823-832 doi:10.1016/j.ejpn.2017.07.007.

Cognition in childhood dystonia: a systematic review.

Coenen MA, Eggink H, Tijssen MA, Spikman JM

Developmental medicine and child neurology 2018; (60(3)):244-255 doi:10.1111/dmcn.13632.

Mutant torsinA in the heterozygous DYT1 state compromises HSV propagation in infected neurons and fibroblasts.

György B, Cruz L, Yellen D, et al.

Scientific reports 2018; (8(1)):2324 doi:10.1038/s41598-018-19865-2.

Basic and Translational Neuroscience of Childhood-Onset Dystonia: A Control-Theory Perspective.

Sanger TD

Annual review of neuroscience 2018; (41()):41-59 doi:10.1146/annurev-neuro-080317-061504.

Surgical treatment of dystonia.

Cury RG, Kalia SK, Shah BB, et al.

Expert review of neurotherapeutics 2018; (18(6)):477-492 doi:10.1080/14737175.2018.1478288.

Resting-State Pallidal-Cortical Oscillatory Couplings in Patients With Predominant Phasic and Tonic Dystonia.

Yokochi F, Kato K, Iwamuro H, et al.

Frontiers in neurology 2018; (9()):375 doi:10.3389/fneur.2018.00375.

Dystonia: diagnosis and management.

Albanese A, Di Giovanni M, Lalli S

European journal of neurology 2019; (26(1)):5-17 doi:10.1111/ene.13762.

Motor and non-motor determinants of health-related quality of life in young dystonia patients.

Eggink H, Coenen MA, de Jong R, et al.

Parkinsonism & related disorders 2019; (58()):50-55 doi:10.1016/j.parkreldis.2018.08.008.

Dystonia.

Balint B, Mencacci NE, Valente EM, et al.

Nature reviews. Disease primers 2018; (4(1)):25 doi:10.1038/s41572-018-0023-6.

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.

Deep Brain Stimulation for the Dystonias: Evidence, Knowledge Gaps, and Practical Considerations.

Reese R, Volkmann J

Movement disorders clinical practice 2017; (4(4)):486-494 doi:10.1002/mdc3.12519.

Nonmotor Symptoms in Dopa-Responsive Dystonia.

Antelmi E, Stamelou M, Liguori R, Bhatia KP

Movement disorders clinical practice 2015; (2(4)):347-356 doi:10.1002/mdc3.12211.

SPG11 Mutations Associated With a Complex Phenotype Resembling Dopa-Responsive Dystonia.

Wijemanne S, Shulman JM, Jimenez-Shahed J, et al.

Movement disorders clinical practice 2015; (2(2)):149-154 doi:10.1002/mdc3.12144.

Twelve-year Follow-up of A Large Italian Family with Atypical Phenotypes of DYT1-dystonia.

Magrinelli F, Bacchin R, Tinazzi M, Gambarin M

Movement disorders clinical practice 2019; (6(2)):166-170 doi:10.1002/mdc3.12712.

Pharmacological management of abnormal tone and movement in cerebral palsy.

Lumsden DE, Crowe B, Basu A, et al.

Archives of disease in childhood 2019; (104(8)):775-780 doi:10.1136/archdischild-2018-316309.

Outcomes of Intrathecal Baclofen Therapy Compared With Deep Brain Stimulation in a Patient With Dystonic Cerebral Palsy: A Case Report.

Chae M, Hong S, Jung NY, et al.

Annals of rehabilitation medicine 2019; (43(3)):335-340 doi:10.5535/arm.2019.43.3.335.

ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.

Vijiaratnam N, Bhatia KP, Lang AE, et al.

Movement disorders clinical practice 2019; (6(7)):512-520 doi:10.1002/mdc3.12816.

Decreased number of striatal cholinergic interneurons and motor deficits in dopamine receptor 2-expressing-cell-specific Dyt1 conditional knockout mice.

Yokoi F, Oleas J, Xing H, et al.

Neurobiology of disease 2020; (134()):104638 doi:10.1016/j.nbd.2019.104638.

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.

Powis Z, Towne MC, Hagman KDF, et al.

Clinical genetics 2020; (97(2)):305-311 doi:10.1111/cge.13657.

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.

Caregiver burden and health-related quality of life in idiopathic dystonia patients under botulinum toxin treatment: a cross-sectional study.

Drexel SC, Klietz M, Kollewe K, et al.

Journal of neural transmission (Vienna, Austria : 1996) 2020; (127(1)):61-70 doi:10.1007/s00702-019-02109-6.

Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis.

Artusi CA, Dwivedi A, Romagnolo A, et al.

Journal of neurology, neurosurgery, and psychiatry 2020; (91(4)):426-433 doi:10.1136/jnnp-2019-322169.

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.

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.

Ng A, Galosi S, Salz L, et al.

BMC neurology 2020; (20(1)):246 doi:10.1186/s12883-020-01798-x.

Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants.

Li XY, Dai LF, Wan XH, et al.

Parkinsonism & related disorders 2020; (77()):76-82 doi:10.1016/j.parkreldis.2020.06.002.

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.

Fifteen-minute consultation: Approach to investigation and management of childhood dystonia.

Forman EB, King MD, Gorman KM

Archives of disease in childhood. Education and practice edition 2021; (106(2)):71-77 doi:10.1136/archdischild-2019-318131.

Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.

Kim M, Kim AR, Park J, et al.

Clinical neurology and neurosurgery 2020; (199()):106267 doi:10.1016/j.clineuro.2020.106267.

Monogenic variants in dystonia: an exome-wide sequencing study.

Zech M, Jech R, Boesch S, et al.

The Lancet. Neurology 2020; (19(11)):908-918 doi:10.1016/S1474-4422(20)30312-4.

Duration of Symptom Relief Between Injections for AbobotulinumtoxinA (Dysport®) in Spastic Paresis and Cervical Dystonia: Comparison of Evidence From Clinical Studies.

Esquenazi A, Delgado MR, Hauser RA, et al.

Frontiers in neurology 2020; (11()):576117 doi:10.3389/fneur.2020.576117.

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.

Dystonia updates: definition, nomenclature, clinical classification, and etiology.

Grütz K, Klein C

Journal of neural transmission (Vienna, Austria : 1996) 2021; (128(4)):395-404 doi:10.1007/s00702-021-02314-2.

Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs.

Kim W, Cho JS, Shim YK, et al.

Brain & development 2021; (43(7)):759-767 doi:10.1016/j.braindev.2021.02.006.

Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech.

Abel M, Pfister R, Hussein I, et al.

Frontiers in neurology 2021; (12()):662910 doi:10.3389/fneur.2021.662910.

Pallidal and Cortical Oscillations in Freely Moving Patients With Dystonia.

Averna A, Arlotti M, Rosa M, et al.

Neuromodulation : journal of the International Neuromodulation Society 2023; (26(8)):1661-1667 doi:10.1111/ner.13503.

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.

Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics.

Salles PA, Terán-Jimenez M, Vidal-Santoro A, et al.

Neurology. Clinical practice 2021; (11(6)):e876-e884 doi:10.1212/CPJ.0000000000001125.

GPi-DBS for KMT2B-Associated Dystonia: Systematic Review and Meta-Analysis.

Rajan R, Garg K, Saini A, et al.

Movement disorders clinical practice 2022; (9(1)):31-37 doi:10.1002/mdc3.13374.

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.

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.

Holla VV, Neeraja K, Stezin A, et al.

Journal of movement disorders 2022; (15(2)):156-161 doi:10.14802/jmd.21146.

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.

Restoration of functional network state towards more physiological condition as the correlate of clinical effects of pallidal deep brain stimulation in dystonia.

Filip P, Jech R, Fečíková A, et al.

Brain stimulation 2022; (15(5)):1269-1278 doi:10.1016/j.brs.2022.08.025.

Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: Case report

Rangel YA, Espinosa E

Biomedica : revista del Instituto Nacional de Salud 2022; (42(3)):429-434 doi:10.7705/biomedica.6296.

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.

Deep brain stimulation in animal models of dystonia.

Perl S, Lüttig A, Köhling R, Richter A

Neurobiology of disease 2022; (175()):105912 doi:10.1016/j.nbd.2022.105912.

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.

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.

Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.

Stephen CD, Dy-Hollins M, Gusmao CM, et al.

Seminars in neurology 2023; (43(1)):17-34 doi:10.1055/s-0043-1764292.

Early-onset inherited dystonias versus late-onset idiopathic dystonias: Same or different biological mechanisms?

Erro R, Monfrini E, Di Fonzo A

International review of neurobiology 2023; (169()):329-346 doi:10.1016/bs.irn.2023.05.002.

DYT-TOR1A dystonia: an update on pathogenesis and treatment.

Fan Y, Si Z, Wang L, Zhang L

Frontiers in neuroscience 2023; (17()):1216929 doi:10.3389/fnins.2023.1216929.

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Higuchi Y, Ando M, Kojima F, et al.

Journal of neurology 2024; (271(1)):419-430 doi:10.1007/s00415-023-11998-3.

Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia.

Kola S, Kandadai RM, Kashyap M, et al.

Annals of Indian Academy of Neurology 2023; (26(5)):766-768 doi:10.4103/aian.aian_319_23.

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.

Dopa-responsive dystonia and paroxysmal dystonic attacks associated with ATP1A3 gene variant.

Soares MC, Parmera JB, Bezerra MER, Cury RG

Practical neurology 2024; (24(4)):326-328 doi:10.1136/pn-2023-004045.

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.

Actigraph-based quantification of sleep in children with dystonia undergoing deep brain stimulation.

Zhang F, Mithani K, Breitbart S, et al.

Neurosurgical focus 2024; (56(6)):E17 doi:10.3171/2024.3.FOCUS2462.

A Classic Cornelia De Lange Syndrome Type 5 (CdLS5) With a De Novo Missense Variation of p.Gly210Arg in the HDAC8 Gene With a Novel Phenotype of Generalized Dystonia.

Chhajed M, Lallar M, Gunasekaran PK, et al.

Cureus 2024; (16(5)):e60838 doi:10.7759/cureus.60838.

A Systematic Review of Botulinum Toxin Injection in Pediatric Dystonia.

Rasera A, Squintani GM, Cerruto MA

Toxins 2024; (16(7)) doi:10.3390/toxins16070289.

The clinical spectrum and pathogenesis associated with KMT2B variants in Chinese pediatric patients.

Ding S, Xie G, Han Z, et al.

Parkinsonism & related disorders 2024; (129()):107172 doi:10.1016/j.parkreldis.2024.107172.

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 and Basic Research on Dopa-Responsive Dystonia: Neuropathological and Neurochemical Findings.

Furukawa Y

Juntendo medical journal 2025; (71(1)):2-10 doi:10.14789/ejmj.JMJ24-0023-R.

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.

Altered Functional Brain Connectivity in Dyt1 Knock-in mouse models.

Adury RZ, Wilkes BJ, Girdhar P, et al.

Dystonia (Lausanne, Switzerland) 2025; (4()) doi:10.3389/dyst.2025.13874.

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.

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.

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.

Clinical, imaging and genetic profile of KMT2B-related dystonia: a review of published cases.

Mahale RR, Khanda P, Roy S, Mailankody P

Journal of neural transmission (Vienna, Austria : 1996) 2026; (133(7)):1511-1518 doi:10.1007/s00702-026-03153-9.

Acute and Chronic Local Field Potential Recordings in Dystonia-A Systematic Review.

Horan J, Donlon E, Gill A, et al.

Movement disorders clinical practice 2026; doi:10.1002/mdc3.70744.