Longitudinal assessment of blepharospasm severity in patients with long disease duration.

Introduction: Blepharospasm (BSP) represents one of the most common idiopathic adult-onset dystonia. A few longitudinal observations indicated progression and worsening of BSP severity within 16 years of onset. Information is lacking about the trend of BSP severity in the later stages of the disease.

Does sex influence the natural history of idiopathic adult-onset dystonia?

Background: Several earlier studies showed a female predominance in idiopathic adult-onset dystonia (IAOD) affecting the craniocervical area and a male preponderance in limb dystonia. However, sex-related differences may result from bias inherent to study design. Moreover, information is lacking on whether sex-related differences exist in expressing other dystonia-associated features and dystonia spread.

Do cerebrovascular risk factors impact the clinical expression of idiopathic isolated adult-onset dystonia?

Background: Although acquired dystonia may develop following ischaemic/haemorrhagic stroke, the relationship between cerebrovascular disease and idiopathic dystonia has been poorly investigated. This cross sectional study aimed at evaluating the impact of cerebrovascular risk factors on the clinical expression of idiopathic adult onset dystonia (IAOD), with reference to dystonia localization and dystonia-associated features.

Methods: Data were obtained from the Italian Dystonia Registry.

Relationship between risk and protective factors and clinical features of Parkinson's disease.

Background: Non-genetic risk factors play a relevant role in Parkinson's disease (PD) development but the relationship between these factors and PD clinical features is unknown.

Objective: The aim of the present multicenter study was to investigate possible relationship between risk factors and clinical motor and non-motor features in a large sample of PD patients.

Methods: Six hundred ninety-four patients with PD participated.

Spread of segmental/multifocal idiopathic adult-onset dystonia to a third body site.

Background: Adult-onset focal dystonia can spread to involve one, or less frequently, two additional body regions. Spread of focal dystonia to a third body site is not fully characterized.

Materials And Methods: We retrospectively analyzed data from the Italian Dystonia Registry, enrolling patients with segmental/multifocal dystonia involving at least two parts of the body or more.

Neuroimaging in idiopathic adult-onset focal dystonia.

We aimed to study the attitude of Italian neurologists in the use of conventional MRI in patients with idiopathic adult-onset focal dystonia. Patients were included in the Italian Dystonia Registry by experts working in different Italian centers. MRI was available for 1045 of the 1471 (71%) patients included in the analysis.

Motor and Sensory Features of Cervical Dystonia Subtypes: Data From the Italian Dystonia Registry.

Cervical dystonia (CD) is one of the most common forms of adult-onset isolated dystonia. Recently, CD has been classified according to the site of onset and spread, in different clinical subgroups, that may represent different clinical entities or pathophysiologic subtypes. In order to support this hypothesis, in this study we have evaluated whether different subgroups of CD, that clinically differ for site of onset and spread, also imply different sensorimotor features.

Risk factors of Parkinson disease: Simultaneous assessment, interactions, and etiologic subtypes.

Objective: To perform a simultaneous evaluation of potential risk/protective factors of Parkinson disease (PD) to identify independent risk/protective factors, to assess interaction among factors, and to determine whether identified risk factors predict etiologic subtypes of PD.

Methods: We designed a large case-control study assessing 31 protective/risk factors of PD, including environmental and lifestyle factors, comorbid conditions, and drugs. The study enrolled 694 patients with PD and 640 healthy controls from 6 neurologic centers.

Demographic and clinical determinants of neck pain in idiopathic cervical dystonia.

Cervical dystonia is associated with neck pain in a significant proportion of cases, but the mechanisms underlying pain are largely unknown. In this exploratory study, we compared demographic and clinical variables in cervical dystonia patients with and without neck pain from the Italian Dystonia Registry. Univariable and multivariable logistic regression analysis indicated a higher frequency of sensory trick and a lower educational level among patients with pain.

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

Objective: 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.

Does acute peripheral trauma contribute to idiopathic adult-onset dystonia?

Background: Acute peripheral trauma is a controversial risk factor for idiopathic dystonia.

Materials And Methods: We retrospectively analyzed data from the Italian Dystonia Registry regarding the occurrence of acute peripheral trauma severe enough to require medical attention in 1382 patients with adult-onset idiopathic dystonia and 200 patients with acquired adult-onset dystonia.

Results: Patients with idiopathic and acquired dystonia showed a similar burden of peripheral trauma in terms of the number of patients who experienced trauma (115/1382 vs.

Modifiable risk and protective factors in disease development, progression and clinical subtypes of Parkinson's disease: What do prospective studies suggest?

Parkinson's disease (PD) is a neurodegenerative disorder whose pathogenesis depends on a combination of genetic and environmental factors. The aim of the present review was to provide an updated description of the findings emerging from prospective longitudinal cohort studies on the possible risk/protective factors underlying the development, progression and clinical subtypes of PD. We reviewed all the environmental, lifestyle, dietary, comorbid and pharmacological factors that have been investigated as possible modifiable protective/risk factors for PD by longitudinal studies.

The Relationships Between Ataxia and Cognition in Spinocerebellar Ataxia Type 2.

The clinical spectrum of spinocerebellar ataxia type 2 includes motor manifestations and cognitive disturbances in executive functions, memory, and visuoconstructive skills. The relationships between severity of motor disturbances and altered cognition are poorly known. In this study, we assessed patients with spinocerebellar ataxia type 2 and age- and sex-matched healthy control subjects by a test battery including the Mini-mental State Examination, the Wisconsin Card Sorting test, and the Wechsler Memory Scale-Revised.

A neural network-based software to recognise blepharospasm symptoms and to measure eye closure time.

Blepharospasm (BSP) is an adult-onset focal dystonia with phenomenologically heterogeneous effects, including, but not limited to, blinks, brief or prolonged spasms, and a narrowing or closure of the eyelids. In spite of the clear and well-known symptomatology, objectively rating the severity of this dystonia is a rather complex task since BSP symptoms are so subtle and hardly perceptible that even expert neurologists can rate the gravity of the pathology differently in the same patients. Software tools have been developed to help clinicians in the rating procedure.

Learning from Goal and Action Based Observations Differentially Modulates Functional Motor Cortical Plasticity.

Action observation can facilitate motor skill learning and lead to a memory trace in motor representations of action. However, it remains unclear whether the action itself or the goal of the action drive changes in motor representations after learning by observation. We performed two experiments.

Sensory trick in upper limb dystonia.

Introduction: Sensory trick is a specific maneuver that temporarily improves dystonia that is usually observed in 44%-89% of patients with cranial-cervical dystonia and in 20% of patients with upper limb dystonia. This study aimed to assess the prevalence of sensory trick in a cohort of 37 patients with idiopathic adult-onset upper limb dystonia and to determine whether sensory trick can be a useful tool to distinguish dystonic and non-dystonic tremor.

Methods: Thirty-seven right-handed patients with idiopathic upper limb dystonia and disturbed handwriting and 19 patients with non-dystonic action tremor in the upper limb causing writing disturbances participated into the study.

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

Background: Diagnosis of focal dystonia is based on clinical grounds and is therefore open to bias. To date, diagnostic guidelines have been only proposed for blepharospasm and laryngeal dystonia. To provide practical guidance for clinicians with less expertise in dystonia, a group of Italian Movement Disorder experts formulated clinical diagnostic recommendations for cervical, oromandibular, and limb dystonia.

Differences in psychopathology and behavioral characteristics of patients affected by conversion motor disorder and organic dystonia.

Purpose: Typically, the diagnosis of conversion motor disorder (CMD) is achieved by the exclusion of a wide range of organic illnesses rather than by applying positive criteria. New diagnostic criteria are highly needed in this scenario. The main aim of this study was to explore the use of behavioral features as an inclusion criterion for CMD, taking into account the relationship of the patients with physicians, and comparing the results with those from patients affected by organic dystonia (OD).