title: The Italian Dystonia Registry: rationale, design and preliminary findings.
abstract: The Italian Dystonia Registry is a multicenter data collection system that will prospectively assess the phenomenology and natural history of adult-onset dystonia and will serve as a basis for future etiological, pathophysiological and therapeutic studies. In the first 6 months of activity, 20 movement disorders Italian centres have adhered to the registry and 664 patients have been recruited. Baseline historical information from this cohort provides the first general overview of adult-onset dystonia in Italy. The cohort was characterized by a lower education level than the Italian population, and most patients were employed as artisans, builders, farmers, or unskilled workers. The clinical features of our sample confirmed the peculiar characteristics of adult-onset dystonia, i.e. gender preference, peak age at onset in the sixth decade, predominance of cervical dystonia and blepharospasm over the other focal dystonias, and a tendency to spread to adjacent body parts, The sample also confirmed the association between eye symptoms and blepharospasm, whereas no clear association emerged between extracranial injury and dystonia in a body site. Adult-onset dystonia patients and the Italian population shared similar burden of arterial hypertension, type 2 diabetes, coronary heart disease, dyslipidemia, and hypothyroidism, while hyperthyroidism was more frequent in the dystonia population. Geographic stratification of the study population yielded no major difference in the most clinical and phenomenological features of dystonia. Analysis of baseline information from recruited patients indicates that the Italian Dystonia Registry may be a useful tool to capture the real world clinical practice of physicians that visit dystonia patients.
authors.affiliation: Department of Basic Science, Neuroscience and Sense Organs, Aldo Moro University of Bari, 70124, Bari, Italy. giovanni.defazio@uniba.it.
authors.forename: Giovanni
authors.identifier: http://orcid.org/0000-0001-5950-3110
authors.initials: G
authors.lastname: Defazio
authors.affiliation: Department of Neurosciences, Reproductive Science and Dentistry, Federico II University of Naples, Naples, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Esposito
authors.affiliation: Section of Human Physiology, Department of Experimental Medicine, Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genoa, Genoa, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Abbruzzese
authors.affiliation: IRCCS Institute of Neurological Sciences, Bologna, Italy.
authors.forename: C L
authors.initials: CL
authors.lastname: Scaglione
authors.affiliation: Department of Neurology and Psychiatry, Neuromed Institute IRCCS, Sapienza University of Rome, Pozzilli, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Fabbrini
authors.affiliation: Department of Neurology and Psychiatry, Neuromed Institute IRCCS, Sapienza University of Rome, Pozzilli, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Ferrazzano
authors.affiliation: Department of Neurosciences, Reproductive Science and Dentistry, Federico II University of Naples, Naples, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Peluso
authors.affiliation: Department of Basic Science, Neuroscience and Sense Organs, Aldo Moro University of Bari, 70124, Bari, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Pellicciari
authors.affiliation: Department of Basic Science, Neuroscience and Sense Organs, Aldo Moro University of Bari, 70124, Bari, Italy.
authors.forename: A F
authors.initials: AF
authors.lastname: Gigante
authors.affiliation: Department of Neurology, AOB "G. Brotzu" General Hospital, Cagliari, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Cossu
authors.affiliation: Department of Neurology, AOB "G. Brotzu" General Hospital, Cagliari, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Arca
authors.affiliation: Section of Human Physiology, Department of Experimental Medicine, Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genoa, Genoa, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Avanzino
authors.affiliation: Neurology Unit, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Bono
authors.affiliation: Neurology Unit, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
authors.forename: M R
authors.initials: MR
authors.lastname: Mazza
authors.affiliation: Neurologic Unit, University Hospital, Verona, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Bertolasi
authors.affiliation: Neurologic Unit, University Hospital, Verona, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Bacchin
authors.affiliation: Neurologic Unit, Department of Neuroscience, University Hospital "S. Maria della Misericordia", Udine, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Eleopra
authors.affiliation: Neurologic Unit, Department of Neuroscience, University Hospital "S. Maria della Misericordia", Udine, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Lettieri
authors.affiliation: Department of Neuroscience, University of Messina, Messina, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Morgante
authors.affiliation: San Filippo Neri Hospital, ASL Roma 1, Rome, Italy.
authors.forename: M C
authors.initials: MC
authors.lastname: Altavista
authors.affiliation: San Filippo Neri Hospital, ASL Roma 1, Rome, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Polidori
authors.affiliation: IRCCS Institute of Neurological Sciences, Bologna, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Liguori
authors.affiliation: Neurologic Unit, San Paolo Hospital, Bari, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Misceo
authors.affiliation: Neurology Unit, Department of Neuroscience, University Hospital, University of Verona, Verona, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Squintani
authors.affiliation: Neurology Unit, Department of Neuroscience, University Hospital, University of Verona, Verona, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Tinazzi
authors.affiliation: Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Ceravolo
authors.affiliation: Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Unti
authors.affiliation: Section of Neurology, Department of Translational Medicine, University of Eastern Piedmont "Amedeo Avogadro", Novara, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Magistrelli
authors.affiliation: Neurology Unit, Umberto I Hospital, Turin, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Coletti Moja
authors.affiliation: Neuromed Institute IRCCS, Pozzilli, IS, Italy.
authors.forename: N
authors.initials: N
authors.lastname: Modugno
authors.affiliation: Movement Disorders Unit, Center for Parkinson's Disease and Extrapyramidal Disorders, Institute of Neurology, Catholic University, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Petracca
authors.affiliation: Neurology Unit, University Hospital S. Andrea delle Fratte, University of Perugia, Perugia, Italy.
authors.forename: N
authors.initials: N
authors.lastname: Tambasco
authors.affiliation: ASST Valcamonica, Esine, Italy.
authors.forename: M S
authors.initials: MS
authors.lastname: Cotelli
authors.affiliation: Neurology Department, Asti Hospital, Asti, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Aguggia
authors.affiliation: Neurology, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Pisani
authors.affiliation: Neurology Unit, Villa Sofia Hospital, Palermo, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Romano
authors.affiliation: Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Zibetti
authors.affiliation: Movement Disorders Unit, Center for Parkinson's Disease and Extrapyramidal Disorders, Institute of Neurology, Catholic University, Rome, Italy.
authors.forename: A R
authors.initials: AR
authors.lastname: Bentivoglio
authors.affiliation: Department of Neurology, Istituto Clinico Humanitas, Rozzano, Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Albanese
authors.affiliation: Department of Neuroscience, University of Messina, Messina, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Girlanda
authors.affiliation: Department of Neurology and Psychiatry, Neuromed Institute IRCCS, Sapienza University of Rome, Pozzilli, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Berardelli
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D018450:Disease Progression; D004421:Dystonia / Q000175:diagnosis* / Q000453:epidemiology* / Q000503:physiopathology / Q000523:psychology; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D012042:Registries; D012189:Retrospective Studies; D012307:Risk Factors; D012720:Severity of Illness Index; D055815:Young Adult
keywords: Dystonia; Epidemiology; Risk factors