The Italian Dystonia Registry: rationale, design and preliminary findings

Defazio, Giovanni; Esposito, Marcello; Abbruzzese, Giovanni; Scaglione, Cesa; Fabbrini, Giovanni; Ferrazzano, Gina; Peluso, Silvio; Pellicciari, Roberta; Gigante, Angelo Fabio; Cossu, Giovanni; Arca, Roberta; Avanzino, Laura; Bono, Francesco; Mazza, Maria Rosaria; Bertolasi, Laura; Bacchin, Ruggero; Eleopra, Roberto; Lettieri, Christian; Morgante, Francesca; Altavista, Maria Concetta; Polidori, L.; Liguori, Rocco; Misceo, Salvatore; Squintani, Giovanna; Tinazzi, Michèle; Ceravolo, Roberto; Unti, Elisa; Magistrelli, Luca; Moja, Mario Coletti; Modugno, Nicola; Petracca, Martina; Tambasco, Nicola; Cotelli, Maria Sofia; Aguggia, Marco; Pisani, Antonio; Romano, Marcello; Zibetti, Maurizio; Bentivoglio, Anna Rita; Albanese, Alberto; Girlanda, Paolo; Berardelli, Alfredo

doi:10.1007/s10072-017-2839-3

Cited by 40 publications

(43 citation statements)

References 22 publications

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“…Data were obtained from the Italian Dystonia Registry, a database established in 2016 that stores demographic and clinical information of dystonia patients. 14 The study was based on entirely retrospective data collection. A total of 37 Italian institutions contribute to the database using a common clinical protocol.…”

Section: Methodsmentioning

confidence: 99%

Idiopathic Non‐task‐Specific Upper Limb Dystonia, a Neglected Form of Dystonia

et al. 2020

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The objective of this study was to describe the clinical and demographic features of idiopathic non-task-specific upper limb dystonia compared with the task-specific form. Methods: In this retrospective study, adult patients with idiopathic upper limb dystonia, either focal or as part of a segmental/multifocal dystonia, from the Italian Dystonia Registry were enrolled. In patients with focal upper limb dystonia, dystonia spread was estimated by survival analysis. Results: Of the 1522 patients with idiopathic adult-onset dystonia included in the Italian Dystonia Registry, we identified 182 patients with upper limb dystonia. Nontask-specific dystonia was present in 61.5% of enrolled cases. Women predominated among non-task-specific patients, whereas men predominated in the task-specific group. Peak age of upper limb dystonia onset was in the sixth decade in the non-task-specific group and in the fourth decade in the task-specific group. In both groups, upper limb dystonia started as focal dystonia or as part of a segmental dystonia. Segmental onset was more frequent among non-task-specific patients, whereas focal onset predominated among task-specific patients. Dystonic action tremor was more frequent among non-taskspecific patients. No significant differences between groups emerged in terms of sensory trick frequency, rest tremor, or family history of dystonia. In patients with focal upper limb dystonia, dystonia spread was greater in the non-task-specific group. Conclusion: Novel information on upper limb dystonia patients suggests that non-task-specific and task-specific upper limb dystonia have different demographic and

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Section: Methodsmentioning

confidence: 99%

Idiopathic Non‐task‐Specific Upper Limb Dystonia, a Neglected Form of Dystonia

et al. 2020

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“…The most common form of isolated dystonia is adult-onset focal dystonia that primarily affects one body region, such as the upper face, neck, limb or larynx 3. At onset, dystonia typically affects only one body region, but with time dystonia can spread to involve other contiguous or distant regions of the body and lead to greater disability dependent on what body region or regions become involved 4–13…”

Section: Introductionmentioning

confidence: 99%

Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study

Berman

Groth

Sillau

et al. 2019

J Neurol Neurosurg Psychiatry

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ObjectiveIsolated focal dystonia can spread to muscles beyond the initially affected body region, but risk of spread has not been evaluated in a prospective manner. Furthermore, body regions at risk for spread and the clinical factors associated with spread risk are not well characterised. We sought here to prospectively characterise risk of spread in recently diagnosed adult-onset isolated focal dystonia patients.MethodsPatients enrolled in the Dystonia Coalition with isolated dystonia affecting only the neck, upper face, hand or larynx at onset of symptoms were included. Timing of follow-up visits was based on a sliding scale depending on symptom onset and ranged from 1 to 4 years. Descriptive statistics, Kaplan-Meier survival curves and Cox proportional hazard regression models were used to assess clinical characteristics associated with dystonia spread.Results487 enrolled participants (68.3% women; mean age: 55.6±12.2 years) met our inclusion/exclusion criteria. Spread was observed in 50% of blepharospasm, 8% of cervical dystonia, 17% of hand dystonia and 16% of laryngeal dystonia cases. Most common regions for first spread were the oromandibular region (42.2%) and neck (22.4%) for blepharospasm, hand (3.5%) for cervical dystonia and neck for hand (12.8%) and laryngeal (15.8%) dystonia. Increased spread risk was associated with a positive family history (HR=2.18, p=0.012) and self-reported alcohol responsiveness (HR=2.59, p=0.009).ConclusionsInitial body region affected in isolated focal dystonia has differential risk and patterns of spread. Genetic factors likely influence the risk of spread. These findings can aid clinical prognostication and inform future investigations into potential disease-modifying treatments.

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“…As the third most common movement disorder after essential tremor and Parkinson’s disease, isolated dystonia is estimated to affect up to 35.1 per 100,000 general population ( 2 ). Its exact incidence, however, is unknown because up to 50% of dystonia cases go misdiagnosed or underdiagnosed at their first encounter ( 3 ) and the average diagnostic delay extends up to 10.1 y, depending on the form of dystonia ( 4 – 10 ).…”

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confidence: 99%

A microstructural neural network biomarker for dystonia diagnosis identified by a DystoniaNet deep learning platform

Valeriani

Simonyan

2020

Proc. Natl. Acad. Sci. U.S.A.

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Isolated dystonia is a neurological disorder of heterogeneous pathophysiology, which causes involuntary muscle contractions leading to abnormal movements and postures. Its diagnosis is remarkably challenging due to the absence of a biomarker or gold standard diagnostic test. This leads to a low agreement between clinicians, with up to 50% of cases being misdiagnosed and diagnostic delays extending up to 10.1 y. We developed a deep learning algorithmic platform, DystoniaNet, to automatically identify and validate a microstructural neural network biomarker for dystonia diagnosis from raw structural brain MRIs of 612 subjects, including 392 patients with three different forms of isolated focal dystonia and 220 healthy controls. DystoniaNet identified clusters in corpus callosum, anterior and posterior thalamic radiations, inferior fronto-occipital fasciculus, and inferior temporal and superior orbital gyri as the biomarker components. These regions are known to contribute to abnormal interhemispheric information transfer, heteromodal sensorimotor processing, and executive control of motor commands in dystonia pathophysiology. The DystoniaNet-based biomarker showed an overall accuracy of 98.8% in diagnosing dystonia, with a referral of 3.5% of cases due to diagnostic uncertainty. The diagnostic decision by DystoniaNet was computed in 0.36 s per subject. DystoniaNet significantly outperformed shallow machine-learning algorithms in benchmark comparisons, showing nearly a 20% increase in its diagnostic performance. Importantly, the microstructural neural network biomarker and its DystoniaNet platform showed substantial improvement over the current 34% agreement on dystonia diagnosis between clinicians. The translational potential of this biomarker is in its highly accurate, interpretable, and generalizable performance for enhanced clinical decision-making.

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The Italian Dystonia Registry: rationale, design and preliminary findings

Cited by 40 publications

References 22 publications

Idiopathic Non‐task‐Specific Upper Limb Dystonia, a Neglected Form of Dystonia

Idiopathic Non‐task‐Specific Upper Limb Dystonia, a Neglected Form of Dystonia

Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study

A microstructural neural network biomarker for dystonia diagnosis identified by a DystoniaNet deep learning platform

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