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.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Brain Stimulation for Torsion Dystonia.

Fox MD, Alterman RL

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

A Comparison of Botox 100 U/mL and Dysport 100 U/mL Using Dose Conversion Ratio 1: 3 and 1: 1.7 in the Treatment of Cervical Dystonia: A Double-Blind, Randomized, Crossover Trial.

Rystedt A, Zetterberg L, Burman J, et al.

Clinical neuropharmacology 2015; (38(5)):170-6 doi:10.1097/WNF.0000000000000101.

Task-specific dystonia: pathophysiology and management.

Sadnicka A, Kassavetis P, Pareés I, et al.

Journal of neurology, neurosurgery, and psychiatry 2016; (87(9)):968-74 doi:10.1136/jnnp-2015-311298.

Update on the Use of Botulinum Toxin Therapy for Focal and Task-Specific Dystonias.

Lungu C, Ahmad OF

Seminars in neurology 2016; (36(1)):41-6 doi:10.1055/s-0035-1571211.

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.

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.

Marras C, Lang A, van de Warrenburg BP, et al.

Movement disorders : official journal of the Movement Disorder Society 2016; (31(4)):436-57 doi:10.1002/mds.26527.

Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?

Verbeek DS, Gasser T

Frontiers in neurology 2016; (7()):241 doi:10.3389/fneur.2016.00241.

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.

A post hoc study on gene panel analysis for the diagnosis of dystonia.

van Egmond ME, Lugtenberg CHA, Brouwer OF, et al.

Movement disorders : official journal of the Movement Disorder Society 2017; (32(4)):569-575 doi:10.1002/mds.26937.

Constant-Current Deep Brain Stimulation of the Globus Pallidus Internus in the Treatment of Primary Dystonia by a Novel 8-Contact (Octrode) Lead.

Sakas DE, Leonardos A, Boviatsis E, et al.

World neurosurgery 2017; (103()):45-56 doi:10.1016/j.wneu.2017.03.091.

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.

Clinical Management of Dystonia in Childhood.

Luc QN, Querubin J

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

Early Onset of Wilson Disease: Diagnostic Challenges.

Wiernicka A, Dądalski M, Jańczyk W, et al.

Journal of pediatric gastroenterology and nutrition 2017; (65(5)):555-560 doi:10.1097/MPG.0000000000001700.

Neuropsychological and Neuropsychiatric Features of Idiopathic and DYT1 Dystonia and the Impact of Medical and Surgical treatment.

Jahanshahi M

Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists 2017; (32(7)):888-905 doi:10.1093/arclin/acx095.

A unifying motor control framework for task-specific dystonia.

Sadnicka A, Kornysheva K, Rothwell JC, Edwards MJ

Nature reviews. Neurology 2018; (14(2)):116-124 doi:10.1038/nrneurol.2017.146.

Rethinking status dystonicus.

Ruiz-Lopez M, Fasano A

Movement disorders : official journal of the Movement Disorder Society 2017; (32(12)):1667-1676 doi:10.1002/mds.27207.

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.

How Many Types of Dystonia? Pathophysiological Considerations.

Quartarone A, Ruge D

Frontiers in neurology 2018; (9()):12 doi:10.3389/fneur.2018.00012.

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.

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

Montaut S, Tranchant C, Drouot N, et al.

JAMA neurology 2018; (75(10)):1234-1245 doi:10.1001/jamaneurol.2018.1478.

Dystonia.

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

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

Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia.

Defazio G, Albanese A, Pellicciari R, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2019; (40(1)):89-95 doi:10.1007/s10072-018-3586-9.

Quality of life in idiopathic dystonia: a systematic review.

Girach A, Vinagre Aragon A, Zis P

Journal of neurology 2019; (266(12)):2897-2906 doi:10.1007/s00415-018-9119-x.

Sensory trick in upper limb dystonia.

Dagostino S, Ercoli T, Gigante AF, et al.

Parkinsonism & related disorders 2019; (63()):221-223 doi:10.1016/j.parkreldis.2019.01.006.

Probabilistic mapping of the antidystonic effect of pallidal neurostimulation: a multicentre imaging study.

Reich MM, Horn A, Lange F, et al.

Brain : a journal of neurology 2019; (142(5)):1386-1398 doi:10.1093/brain/awz046.

Auditory-Perceptual Evaluation of Deep Brain Stimulation on Voice and Speech in Patients With Dystonia.

Finger ME, Siddiqui MS, Morris AK, et al.

Journal of voice : official journal of the Voice Foundation 2020; (34(4)):636-644 doi:10.1016/j.jvoice.2019.02.010.

Intrathecal Baclofen Infusion for the Treatment of Movement Disorders.

Lake W, Shah H

Neurosurgery clinics of North America 2019; (30(2)):203-209 doi:10.1016/j.nec.2018.12.002.

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.

Status dystonicus: management and prevention in children at high risk.

Iodice A, Pisani F

Acta bio-medica : Atenei Parmensis 2019; (90(3)):207-212 doi:10.23750/abm.v90i3.7207.

EMG-based vibro-tactile biofeedback training: effective learning accelerator for children and adolescents with dystonia? A pilot crossover trial.

Casellato C, Ambrosini E, Galbiati A, et al.

Journal of neuroengineering and rehabilitation 2019; (16(1)):150 doi:10.1186/s12984-019-0620-y.

Prestatus and status dystonicus in children and adolescents.

Garone G, Graziola F, Nicita F, et al.

Developmental medicine and child neurology 2020; (62(6)):742-749 doi:10.1111/dmcn.14425.

Aberrant Somatosensory-Motor Adaptation in Musicians' Dystonia.

Furuya S, Lee A, Oku T, Altenmüller E

Movement disorders : official journal of the Movement Disorder Society 2020; (35(5)):808-815 doi:10.1002/mds.27985.

Long-term effects of bilateral pallidal deep brain stimulation in dystonia: a follow-up between 8 and 16 years.

Krause P, Völzmann S, Ewert S, et al.

Journal of neurology 2020; (267(6)):1622-1631 doi:10.1007/s00415-020-09745-z.

Patient-reported responses to medical treatment in primary dystonia.

Woo KA, Kim HJ, Yoo D, et al.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2020; (75()):242-244 doi:10.1016/j.jocn.2020.03.025.

Recommendations for Deep Brain Stimulation Device Management During a Pandemic.

Miocinovic S, Ostrem JL, Okun MS, et al.

Journal of Parkinson's disease 2020; (10(3)):903-910 doi:10.3233/JPD-202072.

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.

Cortical neurophysiology of primary isolated dystonia and non-dystonic adults: A meta-analysis.

McCambridge AB, Bradnam LV

The European journal of neuroscience 2021; (53(4)):1300-1323 doi:10.1111/ejn.14987.

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.

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.

Non-Motor Symptoms in Cervical Dystonia: A Review.

Ray S, Pal PK, Yadav R

Annals of Indian Academy of Neurology 2020; (23(4)):449-457 doi:10.4103/aian.AIAN_27_20.

Status dystonicus associated with CLN8 disease.

Yıldırım M, Köse E, Keçeli AM, et al.

Brain & development 2021; (43(4)):571-575 doi:10.1016/j.braindev.2020.12.005.

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.

Tisch S, Kumar KR

Frontiers in neurology 2020; (11()):630391 doi:10.3389/fneur.2020.630391.

Arching deep brain stimulation in dystonia types.

Kim HJ, Jeon B

Journal of neural transmission (Vienna, Austria : 1996) 2021; (128(4)):539-547 doi:10.1007/s00702-021-02304-4.

Botulinum toxin type-A preparations are not the same medications - clinical studies (Part 2).

Sławek J, Bogucki A, Bonikowski M, et al.

Neurologia i neurochirurgia polska 2021; (55(2)):141-157 doi:10.5603/PJNNS.a2021.0028.

Botulinum toxin type A versus anticholinergics for cervical dystonia.

Rodrigues FB, Duarte GS, Castelão M, et al.

The Cochrane database of systematic reviews 2021; (4()):CD004312 doi:10.1002/14651858.CD004312.pub3.

Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.

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

Movement disorders : official journal of the Movement Disorder Society 2021; (36(8)):1959-1964 doi:10.1002/mds.28614.

Battery for deep brain stimulation depletion in Parkinson's Disease and dystonia patients - a systematic review.

Przytuła F, Dulski J, Sobstyl M, Sławek J

Neurologia i neurochirurgia polska 2021; (55(4)):346-350 doi:10.5603/PJNNS.a2021.0041.

Case Report: Guitarist's cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation.

Hasegawa T, Hosaka T, Harada R, et al.

F1000Research 2021; (10()):361 doi:10.12688/f1000research.51433.1.

Pediatric Dystonic Storm: A Hospital-Based Study.

Goswami JN, Roy S, Patnaik SK

Neurology. Clinical practice 2021; (11(5)):e645-e653 doi:10.1212/CPJ.0000000000000989.

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.

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.

Dystonia Diagnosis: Clinical Neurophysiology and Genetics.

di Biase L, Di Santo A, Caminiti ML, et al.

Journal of clinical medicine 2022; (11(14)) doi:10.3390/jcm11144184.

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.

The Dystonias.

Stephen CD

Continuum (Minneapolis, Minn.) 2022; (28(5)):1435-1475 doi:10.1212/CON.0000000000001159.

Role of serum ceruloplasmin in the diagnosis of Wilson's disease: A large Chinese study.

Yang Y, Hao W, Wei T, et al.

Frontiers in neurology 2022; (13()):1058642 doi:10.3389/fneur.2022.1058642.

[Clinical Features of Common Types of Dystonia and Practical Approach for Occupational Dystonia].

Miyamoto R, Mure H, Yamawaki T

Brain and nerve = Shinkei kenkyu no shinpo 2023; (75(1)):5-14 doi:10.11477/mf.1416202273.

Disordered network structure and function in dystonia: pathological connectivity vs. adaptive responses.

Vo A, Nguyen N, Fujita K, et al.

Cerebral cortex (New York, N.Y. : 1991) 2023; (33(11)):6943-6958 doi:10.1093/cercor/bhad012.

Muscular and kinematic features in speed skaters indicate a task-specific dystonia.

Nijenhuis B, Tijssen MAJ, van Zutphen T, et al.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2023; (149()):113-120 doi:10.1016/j.clinph.2023.02.168.

Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review.

Taiwo FT, Adebayo PB

Brain and behavior 2023; (13(6)):e3023 doi:10.1002/brb3.3023.

The changing face of reported status dystonicus - A systematic review.

Lumsden DE, Cif L, Capuano A, Allen NM

Parkinsonism & related disorders 2023; (112()):105438 doi:10.1016/j.parkreldis.2023.105438.

Variant reclassification and clinical implications.

Walsh N, Cooper A, Dockery A, O'Byrne JJ

Journal of medical genetics 2024; (61(3)):207-211 doi:10.1136/jmg-2023-109488.

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.

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.

Nonselective lumbosacral ventral-dorsal rhizotomy for the management of lower-limb hypertonia in nonambulatory children with cerebral palsy.

Abdelmageed S, Dalmage M, Mossner JM, et al.

Neurosurgical focus 2024; (56(6)):E9 doi:10.3171/2024.3.FOCUS2472.

Botulinum Toxin and Deep Brain Stimulation in Dystonia.

de Souza JCC, Falcone ACM, Barbosa RMG, et al.

Toxins 2024; (16(6)) doi:10.3390/toxins16060282.

Usefulness of the Leipzig Score in the Diagnosis of Wilson's Disease - A Diagnostically Challenging Case Report.

Basan NM, Sheikh Hassan M, Gökhan Z, et al.

International medical case reports journal 2024; (17()):819-822 doi:10.2147/IMCRJ.S491888.

Long-Term Outcomes on Pallidal Neurostimulation for Dystonia: A Controlled, Prospective 10-Year Follow-Up.

Krause P, Mahlknecht P, Skogseid IM, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(6)):1098-1111 doi:10.1002/mds.30130.

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M, Dzinovic I, Skorvanek M, et al.

Brain : a journal of neurology 2025; (148(8)):2827-2846 doi:10.1093/brain/awaf059.

Navigating variants of uncertain significance in genetic dyslipidemia: how to assess and counsel patients.

Ison HE, Helm B, Kringlen G, Crawford P

Current opinion in lipidology 2025; (36(2)):49-54 doi:10.1097/MOL.0000000000000971.

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.

The utility of creatine kinase in status dystonicus and pre-status dystonicus.

Lumsden DE, Papandreou A, Allen NM, Lin JP

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2025; (57()):57-63 doi:10.1016/j.ejpn.2025.05.013.

Pediatric Status Dystonicus: A Single-Center 10-Year Retrospective Review.

Peacock DJSJ, Vithlani K, Clarke GA, et al.

Movement disorders clinical practice 2025; (12(12)):2247-2252 doi:10.1002/mdc3.70282.

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.

A Homozygous c.74A>G Variant in PRKRA Causes DYT-PRKRA: Extensive Familial Segregation and a Variant of Uncertain Significance (VUS) Reclassification.

Soleymani F, Piryaei F, Farhadi A, et al.

Movement disorders : official journal of the Movement Disorder Society 2025; (40(10)):2257-2261 doi:10.1002/mds.30323.

More than a Movement Disorder: Non-Motor Features and Future Directions in Dystonia Research.

Rampes S, Batla A

Brain sciences 2025; (15(12)) doi:10.3390/brainsci15121293.

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.

Functional recovery after bilateral globus pallidus internus deep brain stimulation in primary dystonia: A prospective clinical evaluation.

Faraj MK

Surgical neurology international 2026; (17()):141 doi:10.25259/SNI_432_2025.

Sensory Tricks in Dystonia: A Systematic Review and Nested Quantitative Synthesis.

Mehta A, Shivashanmugam T, Bruno MK, et al.

Brain and behavior 2026; (16(7)):e71575 doi:10.1002/brb3.71575.

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.