{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T05:40:03Z","timestamp":1773294003522,"version":"3.50.1"},"reference-count":104,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T00:00:00Z","timestamp":1658188800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Dystonia diagnosis is based on clinical examination performed by a neurologist with expertise in movement disorders. Clues that indicate the diagnosis of a movement disorder such as dystonia are dystonic movements, dystonic postures, and three additional physical signs (mirror dystonia, overflow dystonia, and geste antagonists\/sensory tricks). Despite advances in research, there is no diagnostic test with a high level of accuracy for the dystonia diagnosis. Clinical neurophysiology and genetics might support the clinician in the diagnostic process. Neurophysiology played a role in untangling dystonia pathophysiology, demonstrating characteristic reduction in inhibition of central motor circuits and alterations in the somatosensory system. The neurophysiologic measure with the greatest evidence in identifying patients affected by dystonia is the somatosensory temporal discrimination threshold (STDT). Other parameters need further confirmations and more solid evidence to be considered as support for the dystonia diagnosis. Genetic testing should be guided by characteristics such as age at onset, body distribution, associated features, and coexistence of other movement disorders (parkinsonism, myoclonus, and other hyperkinesia). The aim of the present review is to summarize the state of the art regarding dystonia diagnosis focusing on the role of neurophysiology and genetic testing.<\/jats:p>","DOI":"10.3390\/jcm11144184","type":"journal-article","created":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T08:28:25Z","timestamp":1658219305000},"page":"4184","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Dystonia Diagnosis: Clinical Neurophysiology and Genetics"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8753-757X","authenticated-orcid":false,"given":"Lazzaro","family":"di Biase","sequence":"first","affiliation":[{"name":"Neurology Unit, Campus Bio-Medico University Hospital Foundation, Via \u00c1lvaro del Portillo 200, 00128 Rome, Italy"},{"name":"Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Campus Bio-Medico University of Rome, Via \u00c1lvaro del Portillo 21, 00128 Rome, Italy"},{"name":"Brain Innovations Lab., Campus Bio-Medico University of Rome, Via \u00c1lvaro del Portillo 21, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Di Santo","sequence":"additional","affiliation":[{"name":"Neurology Unit, Campus Bio-Medico University Hospital Foundation, Via \u00c1lvaro del Portillo 200, 00128 Rome, Italy"},{"name":"Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Campus Bio-Medico University of Rome, Via \u00c1lvaro del Portillo 21, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Letizia","family":"Caminiti","sequence":"additional","affiliation":[{"name":"Neurology Unit, Campus Bio-Medico University Hospital Foundation, Via \u00c1lvaro del Portillo 200, 00128 Rome, Italy"},{"name":"Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Campus Bio-Medico University of Rome, Via \u00c1lvaro del Portillo 21, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6186-8020","authenticated-orcid":false,"given":"Pasquale Maria","family":"Pecoraro","sequence":"additional","affiliation":[{"name":"Neurology Unit, Campus Bio-Medico University Hospital Foundation, Via \u00c1lvaro del Portillo 200, 00128 Rome, Italy"},{"name":"Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Campus Bio-Medico University of Rome, Via \u00c1lvaro del Portillo 21, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona Paola","family":"Carbone","sequence":"additional","affiliation":[{"name":"Neurology Unit, Campus Bio-Medico University Hospital Foundation, Via \u00c1lvaro del Portillo 200, 00128 Rome, Italy"},{"name":"Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Campus Bio-Medico University of Rome, Via \u00c1lvaro del Portillo 21, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Di Lazzaro","sequence":"additional","affiliation":[{"name":"Neurology Unit, Campus Bio-Medico University Hospital Foundation, Via \u00c1lvaro del Portillo 200, 00128 Rome, Italy"},{"name":"Unit of Neurology, Neurophysiology, Neurobiology, Department of Medicine, Campus Bio-Medico University of Rome, Via \u00c1lvaro del Portillo 21, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1002\/mds.25475","article-title":"Phenomenology and classification of dystonia: A consensus update","volume":"28","author":"Albanese","year":"2013","journal-title":"Mov. Disord."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1002\/mds.22597","article-title":"Is this dystonia?","volume":"24","author":"Albanese","year":"2009","journal-title":"Mov. Disord."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/ene.13762","article-title":"Dystonia: Diagnosis and management","volume":"26","author":"Albanese","year":"2018","journal-title":"Eur. J. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Di Biase, L., Di Santo, A., Caminiti, M.L., Pecoraro, P.M., and Di Lazzaro, V. (2022). Classification of Dystonia. Life, 12.","DOI":"10.3390\/life12020206"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1002\/1097-4598(200011)23:11<1752::AID-MUS12>3.0.CO;2-U","article-title":"Utility of an EMG mapping study in treating cervical dystonia","volume":"23","author":"Matsumoto","year":"2000","journal-title":"Muscle Nerve"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1016\/S1474-4422(08)70190-X","article-title":"Clinical applications of transcranial magnetic stimulation in patients with movement disorders","volume":"7","author":"Edwards","year":"2008","journal-title":"Lancet Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/j.clinph.2007.10.014","article-title":"The clinical diagnostic utility of transcranial magnetic stimulation: Report of an IFCN committee","volume":"119","author":"Chen","year":"2008","journal-title":"Clin. Neurophysiol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.1002\/mds.21012","article-title":"Noninvasive cortical stimulation with transcranial direct current stimulation in Parkinson\u2019s disease","volume":"21","author":"Fregni","year":"2006","journal-title":"Mov. Disord."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.baga.2015.12.002","article-title":"Transcranial direct current stimulation as treatment for Parkinson\u2019s disease and other movement disorders","volume":"6","author":"Ferrucci","year":"2015","journal-title":"Basal Ganglia"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1007\/s13311-018-00691-3","article-title":"Focused Ultrasound for Neuromodulation","volume":"16","author":"Darrow","year":"2019","journal-title":"Neurotherapeutics"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"549","DOI":"10.3389\/fneur.2019.00549","article-title":"Transcranial Focused Ultrasound (tFUS) and Transcranial Unfocused Ultrasound (tUS) Neuromodulation: From Theoretical Principles to Stimulation Practices","volume":"10","author":"Falato","year":"2019","journal-title":"Front. Neurol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2021\/8438498","article-title":"Focused Ultrasound (FUS) for Chronic Pain Management: Approved and Potential Applications","volume":"2021","author":"Falato","year":"2021","journal-title":"Neurol. Res. Int."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Hallett, M. (2003). Chapter 1 Movement disorders: Overview. Handbook of Clinical Neurophysiology, Elsevier.","DOI":"10.1016\/S1567-4231(09)70149-2"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.parkreldis.2017.06.017","article-title":"Neurophysiological studies on atypical parkinsonian syndromes","volume":"42","author":"Bologna","year":"2017","journal-title":"Park. Relat. Disord."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/S0987-7053(00)00236-7","article-title":"Neurophysiological characterization of parkinsonian syndromes","volume":"30","year":"2000","journal-title":"Neurophysiol. Clin. Neurophysiol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1016\/S1388-2457(02)00080-9","article-title":"Neurophysiological correlate of clinical signs in Parkinson\u2019s disease","volume":"113","author":"Valldeoriola","year":"2002","journal-title":"Clin. Neurophysiol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1093\/brain\/awx104","article-title":"Tremor stability index: A new tool for differential diagnosis in tremor syndromes","volume":"140","author":"Brittain","year":"2017","journal-title":"Brain"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Di Pino, G., Formica, D., Melgari, J.M., Taffoni, F., Salomone, G., di Biase, L., Caimo, E., Vernieri, F., and Guglielmelli, E. (2012, January 24\u221227). Neurophysiological bases of tremors and accelerometric parameters analysis. Proceedings of the 2012 4th IEEE RAS & EMBS International Conference on Biomedical Robotics and Biomechatronics (BioRob), Rome, Italy.","DOI":"10.1109\/BioRob.2012.6290819"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1097\/00004691-199603000-00002","article-title":"Clinical Neurophysiology of Tremor","volume":"13","author":"Deuschl","year":"1996","journal-title":"J. Clin. Neurophysiol."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Hallett, M. (2003). Chapter 32 The clinical neurophysiology of myoclonus. Handbook of Clinical Neurophysiology, Elsevier.","DOI":"10.1016\/S1567-4231(09)70181-9"},{"key":"ref_21","unstructured":"Hallett, M. (2003). Chapter 28 Dystonia. Handbook of Clinical Neurophysiology, Elsevier."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.nbd.2010.08.025","article-title":"Neurophysiology of dystonia: The role of inhibition","volume":"42","author":"Hallett","year":"2011","journal-title":"Neurobiol. Dis."},{"key":"ref_23","first-page":"851","article-title":"Pathophysiology of dystonias","volume":"39","author":"Rothwell","year":"1983","journal-title":"Adv. Neurol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1093\/brain\/112.3.681","article-title":"Reciprocal inhibition between forearm muscles in patients with writer\u2019s cramp and other occupational cramps, symptomatic hemidystonia and hemiparesis due to stroke","volume":"112","author":"Nakashima","year":"1989","journal-title":"Brain"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1093\/brain\/108.3.593","article-title":"Pathophysiology of blepharospasm and oromandibular dystonia","volume":"108","author":"Berardelli","year":"1985","journal-title":"Brain"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1672","DOI":"10.1016\/S1388-2457(00)00359-X","article-title":"Short latency trigemi-no-sternocleidomastoid response in muscles in patients with spasmodic torticollis and blepharospasm","volume":"111","author":"Quartarone","year":"2000","journal-title":"Clin. Neurophysiol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1002\/mds.22814","article-title":"Restoration of motor inhibition through an abnormal premotor-motor connection in dystonia","volume":"25","author":"Huang","year":"2010","journal-title":"Mov. Disord."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1002\/ana.20837","article-title":"Cortical and spinal abnormalities in psychogenic dystonia","volume":"59","author":"Espay","year":"2006","journal-title":"Ann. Neurol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.clinph.2009.02.001","article-title":"Reduced cerebral cortex inhibition in dystonia: Direct evidence in humans","volume":"120","author":"Oliviero","year":"2009","journal-title":"Clin. Neurophysiol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1111\/j.1460-9568.2009.06710.x","article-title":"Inter-hemispheric inhibition is impaired in mirror dystonia","volume":"29","author":"Beck","year":"2009","journal-title":"Eur. J. Neurosci."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1212\/WNL.49.4.1054","article-title":"Impaired inhibition in writer\u2019s cramp during voluntary muscle activation","volume":"49","author":"Chen","year":"1997","journal-title":"Neurology"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.neulet.2004.12.015","article-title":"Task\u2212specific impairment of motor cortical excitation and inhibition in patients with writer\u2019s cramp","volume":"378","author":"Tinazzi","year":"2005","journal-title":"Neurosci. Lett."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"2038","DOI":"10.1093\/brain\/awt150","article-title":"Secondary and primary dystonia: Pathophysiological differences","volume":"136","author":"Kojovic","year":"2013","journal-title":"Brain"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1111\/ene.12521","article-title":"All in the blink of an eye: New insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia","volume":"22","author":"Sadnicka","year":"2014","journal-title":"Eur. J. Neurol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1007\/s00221-008-1572-9","article-title":"Effects of cerebellar TMS on motor cortex of patients with focal dystonia: A preliminary report","volume":"192","author":"Brighina","year":"2008","journal-title":"Exp. Brain Res."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1093\/brain\/awg219","article-title":"Abnormalities of spatial discrimination in focal and generalized dystonia","volume":"126","author":"Molloy","year":"2003","journal-title":"Brain"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1849","DOI":"10.1016\/j.clinph.2018.05.024","article-title":"Somatosensory temporal discrimination in Parkinson\u2019s disease, dystonia and essential tremor: Pathophysiological and clinical implications","volume":"129","author":"Conte","year":"2018","journal-title":"Clin. Neurophysiol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"2179","DOI":"10.1093\/brain\/120.12.2179","article-title":"Idiopathic focal dystonia: A disorder of muscle spindle afferent processing?","volume":"120","author":"Shipman","year":"1997","journal-title":"Brain"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"2586","DOI":"10.1093\/brain\/awg273","article-title":"Abnormal associative plasticity of the human motor cortex in writer\u2019s cramp","volume":"126","author":"Quartarone","year":"2003","journal-title":"Brain"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1902","DOI":"10.1002\/mds.27470","article-title":"High frequency somatosensory stimulation in dystonia: Evidence fordefective inhibitory plasticity","volume":"33","author":"Erro","year":"2018","journal-title":"Mov. Disord."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"2597","DOI":"10.1093\/brain\/awg267","article-title":"Patterning of globus pallidus local field potentials differs between Parkinson\u2019s disease and dystonia","volume":"126","author":"Silberstein","year":"2003","journal-title":"Brain"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1016\/j.expneurol.2006.07.011","article-title":"Neuronal activity in globus pallidus interna can be synchronized to local field potential activity over 3\u201312 Hz in patients with dystonia","volume":"202","author":"Chen","year":"2006","journal-title":"Exp. Neurol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1616","DOI":"10.1002\/mds.27859","article-title":"Ten-Year Reflections on the Neurophysiological Abnormalities of Focal Dystonias in Humans","volume":"34","author":"Conte","year":"2019","journal-title":"Mov. Disord."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1007\/s00221-020-05863-2","article-title":"Delineating the electrophysiological signature of dystonia","volume":"238","author":"Latorre","year":"2020","journal-title":"Exp. Brain Res."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/B978-0-444-64189-2.00017-2","article-title":"The cerebellum and dystonia","volume":"155","author":"Bologna","year":"2018","journal-title":"Handb. Clin. Neurol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/0168-5597(94)90088-4","article-title":"Cerebro-cerebellar interactions in man: Neurophysiological studies in patients with focal cerebellar lesions","volume":"93","author":"Molinari","year":"1994","journal-title":"Electroencephalogr. Clin. Neurophysiol. Potentials Sect."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1093\/brain\/aws372","article-title":"Aristotle\u2019s illusion reveals interdigit functional somatosensory alterations in focal hand dystonia","volume":"136","author":"Tinazzi","year":"2013","journal-title":"Brain"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1093\/brain\/123.1.42","article-title":"Abnormal central integration of a dual somatosensory input in dystonia Evidence for sensory overflow","volume":"123","author":"Tinazzi","year":"2000","journal-title":"Brain"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"2181","DOI":"10.1002\/mds.21160","article-title":"Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers","volume":"21","author":"Edwards","year":"2006","journal-title":"Mov. Disord."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"2871","DOI":"10.1093\/brain\/awp213","article-title":"Abnormal sensorimotor plasticity in organic but not in psychogenic dystonia","volume":"132","author":"Quartarone","year":"2009","journal-title":"Brain"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"3445","DOI":"10.1113\/jphysiol.2010.191072","article-title":"Enhanced human brain associative plasticity in Costello syndrome","volume":"588","author":"Dileone","year":"2010","journal-title":"J. Physiol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1016\/j.parkreldis.2012.03.015","article-title":"Dystonia in Costello syndrome","volume":"18","author":"Dileone","year":"2012","journal-title":"Park. Relat. Disord."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"E3","DOI":"10.3171\/2018.5.FOCUS18155","article-title":"Toward adaptive deep brain stimulation for dystonia","volume":"45","author":"Beudel","year":"2018","journal-title":"Neurosurg. Focus"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"189","DOI":"10.3389\/fnagi.2017.00189","article-title":"Oscillatory activities in neurological disorders of elderly: Biomarkers to target for neuromodulation","volume":"9","author":"Assenza","year":"2017","journal-title":"Front. Aging Neurosci."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"3165","DOI":"10.1152\/jn.00971.2004","article-title":"Spontaneous Pallidal Neuronal Activity in Human Dystonia: Comparison With Parkinson\u2019s Disease and Normal Macaque","volume":"93","author":"Starr","year":"2005","journal-title":"J. Neurophysiol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"S31","DOI":"10.1002\/mds.23619","article-title":"Intraoperative neurophysiology in DBS for dystonia","volume":"26","author":"Vitek","year":"2011","journal-title":"Mov. Disord."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1002\/ana.23951","article-title":"Adaptive deep brain stimulation in advanced Parkinson disease","volume":"74","author":"Little","year":"2013","journal-title":"Ann. Neurol."},{"key":"ref_58","first-page":"e51403","article-title":"Controlling Parkinson\u2019s Disease With Adaptive Deep Brain Stimulation","volume":"89","author":"Little","year":"2014","journal-title":"J. Vis. Exp."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/mds.27215","article-title":"Directional local field potentials: A tool to optimize deep brain stimulation","volume":"33","author":"Tinkhauser","year":"2017","journal-title":"Mov. Disord."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1080\/14737175.2021.2000392","article-title":"Adaptive, personalized closed\u2212loop therapy for Parkinson\u2019s disease: Biochemical, neurophysiological, and wearable sensing systems","volume":"21","author":"Tinkhauser","year":"2021","journal-title":"Expert Rev. Neurother."},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Di Biase, L., Di Santo, A., Caminiti, M.L., De Liso, A., Shah, S.A., Ricci, L., and Di Lazzaro, V. (2020). Gait Analysis in Parkinson\u2019s Disease: An Overview of the Most Accurate Markers for Diagnosis and Symptoms Monitoring. Sensors, 20.","DOI":"10.3390\/s20123529"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"121","DOI":"10.3389\/fneur.2018.00121","article-title":"Quantitative Analysis of Bradykinesia and Rigidity in Parkinson\u2019s Disease","volume":"9","author":"Summa","year":"2018","journal-title":"Front. Neurol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1109\/TNSRE.2020.2987020","article-title":"PDMeter: A Wrist Wearable Device for an at\u2212Home Assessment of the Parkinson\u2019s Disease Rigidity","volume":"28","author":"Raiano","year":"2020","journal-title":"IEEE Trans. Neural Syst. Rehabil. Eng."},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Di Biase, L., Raiano, L., Caminiti, M.L., Pecoraro, P.M., and Di Lazzaro, V. (2022). Artificial intelligence in Parkinson\u2019s disease-symptoms identification and monitoring. Augmenting Neurological Disorder Prediction and Rehabilitation Using Artifi\u2212cial Intelligence, Elsevier.","DOI":"10.1016\/B978-0-323-90037-9.00003-5"},{"key":"ref_65","first-page":"101","article-title":"Dystonia genotypes, phenotypes, and classification","volume":"94","author":"Bressman","year":"2004","journal-title":"Adv. Neurol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1590\/0004-282x20160140","article-title":"Understanding dystonia: Diagnostic issues and how to overcome them","volume":"74","author":"Camargos","year":"2016","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/ana.410270203","article-title":"Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34","volume":"27","author":"Kramer","year":"1990","journal-title":"Ann. Neurol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1212\/WNL.0b013e31824d58ab","article-title":"Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples","volume":"78","author":"Marras","year":"2012","journal-title":"Neurology"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/mds.26527","article-title":"Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force","volume":"31","author":"Marras","year":"2016","journal-title":"Mov. Disord."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1002\/mds.28485","article-title":"Genotype\u2013Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review","volume":"36","author":"Lange","year":"2021","journal-title":"Mov. Disord."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s00702-020-02269-w","article-title":"Combined dystonias: Clinical and genetic updates","volume":"128","author":"Weissbach","year":"2020","journal-title":"J. Neural Transm."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1086\/518427","article-title":"Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia","volume":"80","author":"Risch","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/S1474-4422(09)70083-3","article-title":"Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: A genetic screening study","volume":"8","author":"Djarmati","year":"2009","journal-title":"Lancet Neurol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1002\/ana.23832","article-title":"Mutations in the autoregulatory domain of \u03b2-tubulin 4a cause hereditary dystonia","volume":"73","author":"Hersheson","year":"2012","journal-title":"Ann. Neurol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1002\/mds.23866","article-title":"Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal","volume":"26","author":"Wilcox","year":"2011","journal-title":"Mov. Disord."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1136\/jnnp-2019-322169","article-title":"Differential response to pallidal deep brain stimulation among monogenic dystonias: Systematic review and meta\u2212analysis","volume":"91","author":"Artusi","year":"2020","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/mdc3.13374","article-title":"GPi-DBS for KMT2B-Associated Dystonia: Systematic Review and Meta-Analysis","volume":"9","author":"Rajan","year":"2021","journal-title":"Mov. Disord. Clin. Pract."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"135590","DOI":"10.1016\/j.neulet.2020.135590","article-title":"The expanding clinical and genetic spectrum of ANO3 dystonia","volume":"746","author":"Jiang","year":"2020","journal-title":"Neurosci. Lett."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/mds.27585","article-title":"Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation","volume":"34","author":"Sarva","year":"2018","journal-title":"Mov. Disord."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/ng1194-236","article-title":"Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene","volume":"8","author":"Ichinose","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"e876","DOI":"10.1212\/CPJ.0000000000001125","article-title":"Recognizing Atypical Dopa\u2212Responsive Dystonia and Its Mimics","volume":"11","author":"Salles","year":"2021","journal-title":"Neurol. Clin. Pract."},{"key":"ref_82","first-page":"123","article-title":"A point mutation in the tyrosine hydroxylase gene associated with Segawa\u2019s syndrome","volume":"95","author":"Dworniczak","year":"1995","journal-title":"Qual. Life Res."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1023\/A:1005539803576","article-title":"A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)","volume":"22","author":"Wevers","year":"1999","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1212\/WNL.0b013e318261714a","article-title":"Myoclonus\u2212dystonia syndrome due to tyrosine hydroxylase deficiency","volume":"79","author":"Stamelou","year":"2012","journal-title":"Neurology"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/mds.28874","article-title":"Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review","volume":"37","author":"Weissbach","year":"2021","journal-title":"Mov. Disord."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1086\/512129","article-title":"Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism","volume":"80","author":"Makino","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_87","first-page":"137","article-title":"Torsion dystonia in Panay, Philippines","volume":"14","author":"Lee","year":"1976","journal-title":"Adv. Neurol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.parkreldis.2016.07.012","article-title":"Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism","volume":"31","author":"Heldmann","year":"2016","journal-title":"Park. Relat. Disord."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/lary.27897","article-title":"Voice and swallowing dysfunction in X-linked dystonia parkinsonism","volume":"130","author":"Song","year":"2019","journal-title":"Laryngoscope"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1093\/brain\/awl340","article-title":"The phenotypic spectrum of rapid\u2212onset dystonia\u2212parkinsonism (RDP) and mutations in the ATP1A3 gene","volume":"130","author":"Brashear","year":"2007","journal-title":"Brain"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.neuron.2004.06.028","article-title":"Mutations in the Na+\/K+\u2212ATPase \u03b13 Gene ATP1A3 Are Associated with Rapid\u2212Onset Dystonia Parkinsonism","volume":"43","author":"Aguiar","year":"2004","journal-title":"Neuron"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1016\/j.ajhg.2015.04.008","article-title":"A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus\u2212Dystonia","volume":"96","author":"Mencacci","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1002\/mds.28495","article-title":"An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease","volume":"36","author":"Ferrini","year":"2021","journal-title":"Mov. Disord."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"439","DOI":"10.7326\/L19-0038","article-title":"Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene","volume":"171","author":"Gras","year":"2019","journal-title":"Ann. Intern. Med."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/j.1468-1331.2010.03042.x","article-title":"EFNS guidelines on diagnosis and treatment of primary dystonias","volume":"18","author":"Albanese","year":"2010","journal-title":"Eur. J. Neurol."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.1212\/WNL.54.9.1746","article-title":"The DYT1 phenotype and guidelines for diagnostic testing","volume":"54","author":"Bressman","year":"2000","journal-title":"Neurology"},{"key":"ref_97","unstructured":"American Society of Human Genetics Board of Directors (1995). Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am. J. Hum. Genet., 57, 1233\u20131241."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1089\/gte.1999.3.323","article-title":"Genetic Testing for Early-Onset Torsion Dystonia (DYT1): Introduction of a Simple Screening Method, Experiences from Testing of a Large Patient Cohort, and Ethical Aspects","volume":"3","author":"Klein","year":"1999","journal-title":"Genet. Test."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1136\/jnnp.66.1.86","article-title":"GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness","volume":"66","author":"Robinson","year":"1999","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1212\/01.WNL.0000151979.68010.9B","article-title":"The epsilon\u2212sarcoglycan gene in myoclonic syndromes","volume":"64","author":"Valente","year":"2005","journal-title":"Neurology"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1016\/S1474-4422(20)30312-4","article-title":"Monogenic variants in dystonia: An exome\u2212wide sequencing study","volume":"19","author":"Zech","year":"2020","journal-title":"Lancet Neurol."},{"key":"ref_102","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Stephens, K., and Amemiya, A. (1993). Hereditary Dystonia Overview. GeneReviews(\u00ae), University of Washington."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1086\/344531","article-title":"Evidence That Paternal Expression of the \u03b5-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia","volume":"71","author":"Hedrich","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"763235","DOI":"10.3389\/fnins.2021.763235","article-title":"A New Implantable Closed\u2212Loop Clinical Neural Interface: First Application in Parkinson\u2019s Disease","volume":"15","author":"Arlotti","year":"2021","journal-title":"Front. Neurosci."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/11\/14\/4184\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:53:40Z","timestamp":1760140420000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/11\/14\/4184"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,19]]},"references-count":104,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2022,7]]}},"alternative-id":["jcm11144184"],"URL":"https:\/\/doi.org\/10.3390\/jcm11144184","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,19]]}}}