The Complex Pathway of Conventional Investigations before the Diagnosis of Functional Motor Disorders.

Background: Functional motor disorder (FMD) is a diagnosis of inclusion based on the presence of positive signs on clinical examination, and only a few tests are validated as biomarkers for FMD identification.

Objectives: The aim of this study was to assess the relative frequency of different types of conventional instrumental investigations (such as magnetic resonance imaging/computed tomography [MRI/CT] scan, dopamine transporter single-photon emission computed tomography (DaT-SPECT), electroencephalography (EEG), neurophysiological tests, and other tests) in FMD patients before diagnosis and to identify the clinical and demographic features associated with their use.

Methods: Data were obtained from the Italian Registry of Functional Motor Disorders, a multicenter initiative involving patients with a diagnosis of clinically definite FMD.

The relationship between occupation and specific forms of idiopathic adult-onset dystonia.

Background: The development of idiopathic adult-onset dystonia (IAOD) in different body parts is associated with specific demographic and clinical characteristics, as well as with specific risk factors.

Objective: To investigate whether specific occupations are associated with specific forms of IAOD at onset, namely blepharospasm (BSP), cervical dystonia (CD), and task-specific upper limb dystonia (TS-ULD).

Methods: Data from 905 IAOD patients enrolled in the Italian Dystonia Registry were analysed.

Spasticity Management with Botulinum Toxin in Post-stroke and Multiple Sclerosis Patients: A Retrospective, 'Real-world', Multicenter Study.

BackgroundWhile there is strong evidence for botulinum toxin-A (BoNT-A) in post-stroke spasticity, there is a paucity of data in multiple sclerosis and other conditions in real-world settings.ObjectiveDocument the use of BoNT-A in the management of spasticity, with focus on the treatment of spasticity due to stroke and multiple sclerosis.MethodsThis noninterventional, retrospective study included all adults treated for upper and/or lower limb spasticity (any etiology) at three centers in Italy who received ≥3 BoNT-A injection cycles between 2008 and 2018.

Phenotypic comparison between combined dystonia-parkinsonism and idiopathic adult-onset dystonia.

The clinical characteristics of dystonia occurring in association with sporadic neurodegenerative parkinsonism have not been systematically explored or compared with those of idiopathic adult-onset dystonia. This study aims to compare demographic and clinical features, including the distribution of dystonia at onset, dystonia-associated features, and the propensity for spread between patients with combined dystonia-parkinsonism and those with idiopathic adult-onset dystonia. Patients were selected from the Italian Dystonia Registry.

Tango classes in people with Multiple Sclerosis (PwMS): Impact on motor and non-motor functions.

Background: While music-based therapy (MBT) has been shown to improve motor and non-motor features in multiple sclerosis (MS), benefits of tango have never been assessed.

Objective: To evaluate the benefits of tango classes on quality of life (QoL), mood, fatigue, gait, balance, perception of cognitive disorder and sexuality in people with MS.

Methods: 7 participants (age 41.

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.

The long-term response to botulinum toxin injections in patients with blepharospasm undergoing upper eyelid surgery.

Background: Upper eyelid surgery (UES) is a therapeutical strategy used for those patients affected by blepharospasm (BSP) who either do not respond or experience a gradual decrease in responsiveness to botulinum toxin (BoNT) injections. Nevertheless, most of them need to restart with BoNT despite the intervention.

Aim: To evaluate the long-term post-surgical response to BoNT in patients with BSP and to identify predictive factors associated to treatment outcome.

A case of hemichorea associated with nonketotic hyperglycaemia: A new magnetic resonance spectroscopy (MRS) finding and possible future implications.

Background: Diabetic Striatopathy (DS) is a rare complication of a poor-controlled Diabetes Mellitus consisting of sudden onset of movement disorders. To date, there is still poor knowledge about the pathogenesis.

Case: We describe a 79 year old men affected by sudden onset hemichoreic movements whose cause was a non-ketotic hyperglycaemia diagnosed despite the normal blood glucose levels thanks to brain CT and magnetic resonance imaging.

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.

Phenotypic Variability in Acquired and Idiopathic Dystonia.

Background: To date, a few studies have systematically investigated differences in the clinical spectrum between acquired and idiopathic dystonias.

Objectives: To compare demographic data and clinical features in patients with adult-onset acquired and idiopathic dystonias.

Methods: Patients were identified from among those included in the Italian Dystonia Registry, a multicenter Italian dataset of patients with adult-onset dystonia.

Clinimetrics of the Italian version of the Montreal Cognitive Assessment (MoCA) in adult-onset idiopathic focal dystonia.

This study aimed at assessing the clinimetrics of the Montreal Cognitive Assessment (MoCA) in an Italian cohort of patients with adult-onset idiopathic focal dystonia (AOIFD). N = 86 AOIFD patients and N = 92 healthy controls (HCs) were administered the MoCA. Patients further underwent the Trail-Making Test (TMT) and Babcock Memory Test (BMT), being also screened via the Beck Depression Inventory-II (BDI-II) and the Dimensional Apathy Scale (DAS).

A novel ANO3 variant in two siblings with different phenotypes.

Introduction: Dystonia type 24 is due to the mutation of the ANO3 gene. It generally consists of craniocervical dystonia associated with tremor; however, other neurological manifestations may also occur. Scientific literature has been expanding on its phenotype over the past few years.

Concomitant diagnosis of multiple sclerosis and human immunodeficiency virus (HIV) infection: case report and the review of literature.

Background: To date, few cases of multiple sclerosis (MS) patients with concomitant Human Immunodeficiency Virus (HIV) infection have been described. However, none of the previously described cases has been treated with Natalizumab, probably due to the increasing risk of progressive multifocal leukoencephalopathy (PML).

Case: We report the case of a patient concomitantly diagnosed for HIV infection and MS treated with combined antiretroviral therapy (cART) and Natalizumab for 19 months, without clinical or radiological MS activity.

Effects of three-months folate supplementation on early vascular abnormalities in hyperhomocysteinemic patients with epilepsy.

Background: Epilepsy has been associated with an increased risk of cardiovascular events. Anti-seizure medication (ASM) may contribute to vascular risk by several mechanisms, including increased homocysteine levels. This study aims to assess the global vascular burden in hyperhomocysteinemic people with epilepsy (PWE) on long-term ASM before and after folic acid supplementation and in subgroups of PWE treated with single enzyme-inducing or single non-enzyme inducing ASM.

The C-Terminal Cross-linked Telopeptide of Type I Collagen (CTX-I) as a Potential Cardiomyopathy Biomarker in Friedreich Ataxia Patients.

Friedreich's ataxia (FRDA) is the most common inherited recessive ataxia. Cardiomyopathy (CM) with myocardial hypertrophy is the predominant cause of death. The presence of CM is variable and the risk factors for cardiac involvement are not entirely clear.

The impact of the reclusion on patients with blepharospasm during the COVID19 pandemic.

Background: Blepharospasm (BS) is a focal dystonia that can be treated successfully with Botulinum toxin (BoNT). During the reclusion due to the Covid 19 pandemic many patients missed the scheduled treatment.

Objectives: Aim of the study is to evaluate Level of Disability (LoD) related to BS during the lockdown period.