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.

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.

Validation of a guideline to reduce variability in diagnosing cervical dystonia.

Background: Cervical dystonia is characterized by a variable pattern of neck muscle involvement. Due to the lack of a diagnostic test, cervical dystonia diagnosis is based on clinical examination and is therefore subjective. The present work was designed to provide practical guidance for clinicians in confirming or refuting suspected cervical dystonia.

Writing tremor in Parkinson's disease: frequency and associated clinical features.

Action tremor in Parkinson's disease may present in up to 46% of patients, either as postural or kinetic tremor. How action tremor may affect handwriting has been the object of some investigations; however, clinical features of writing tremor in Parkinson's disease are still not well-characterised. One hundred consecutive patients with idiopathic Parkinson's disease were included in the study.

Does Olfactory Dysfunction Correlate with Disease Progression in Parkinson's Disease? A Systematic Review of the Current Literature.

Background: Loss of olfaction is a well-established early feature of Parkinson's disease (PD). Although olfactory dysfunction has been widely described as a prodromal feature of PD in the literature, whether it can be considered a biomarker of PD progression is still a matter of debate.

Objective: The aim of this work is to define the possible relationship between the progression of olfactory dysfunction and other putative clinical hallmarks of PD over time, through a systematic review of the current literature.

Sudden Onset, Fixed Dystonia and Acute Peripheral Trauma as Diagnostic Clues for Functional Dystonia.

Background: The differentiation of functional dystonia from idiopathic dystonia may be clinically challenging.

Objective: To identify clinical features suggestive of functional dystonia to guide physicians to distinguish functional dystonia from idiopathic dystonia.

Methods: Patient data were extracted from the Italian Registry of Functional Motor Disorders and the Italian Registry of Adult Dystonia.

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.

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.

Advances in the pathophysiology of adult-onset focal dystonias: recent neurophysiological and neuroimaging evidence.

Focal dystonia is a movement disorder characterized by involuntary muscle contractions that determine abnormal postures. The traditional hypothesis that the pathophysiology of focal dystonia entails a single structural dysfunction (i.e.

Does the network model fits neurophysiological abnormalities in blepharospasm?

Several neurophysiological abnormalities have been described in blepharospasm, including loss of inhibition in sensorimotor pathways at cortical and brainstem level and abnormalities of sensory processing. These changes have traditionally been linked to a basal ganglia dysfunction. However, this interpretation has recently been questioned and alternative pathophysiological model positing that dystonia is a network disorder has been proposed.

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.

Cannabinoids and dystonia: an issue yet to be defined.

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures. Besides motor manifestations, patients with dystonia also display non-motor signs and symptoms including psychiatric and sensory disturbances. Symptomatic treatment of motor signs in dystonia largely relies on intramuscular botulinum toxin injections and, in selected cases, on deep brain stimulation.

Upper limb movements in dementia with Lewy body: a quantitative analysis.

Dementia with Lewy body is a neurodegenerative disorder affecting both cognitive and motor domains. Motor impairment manifests predominantly as a symmetrical/mild asymmetrical parkinsonian syndrome that is only mildly responsive to Levodopa. To characterize motor dysfunction in dementia with Lewy body, we quantitatively assessed upper limb movements using a motion-capture system.

C9ORF72 Intermediate Repeat Expansion in a Patient With Psychiatric Disorders and Progressive Cerebellar Ataxia.

Introduction: Large expansions of the noncoding GGGGCC repeat (more than 30) in the first intron of the C9ORF72 gene have been demonstrated to cause amyotrophic lateral sclerosis and frontotemporal dementia. Recent papers have investigated the possible pathogenic role and associated clinical phenotypes of hexanucleotide expansions with intermediate repeat lengths ranging between 20 and 29 repeats.

Case Report: We report a case of a 71-year-old Sardinian female patient with a long history of psychiatric disorders such as mixed anxiety-depressive disorder associated with somatization disorder and histrionic personality who developed a slowly progressive cerebellar syndrome, mild cognitive impairment, pyramidal signs, and rapid eye movement sleep behavior disorder with imaging abnormalities on the DaTSCAN single-photon emission computed tomography indicating an alteration in the presynaptic dopaminergic system.

Diphasic dyskinesias during levodopa-carbidopa intestinal gel (LCIG) infusion in Parkinson's disease.

Objectives: Levodopa-carbidopa intestinal gel infusion (LCIG) is indicated in patients with advanced levodopa-responsive Parkinson's disease (PD) for the treatment of motor fluctuations and dyskinesias. Here we describe 4 PD patients who developed disabling diphasic dyskinesias after LCIG initiation.

Methods: The clinical data of 33 PD patients consecutively treated with LCIG therapy were obtained through direct clinical observation and detailed review of medical records.

Capgras syndrome in Parkinson's disease: two new cases and literature review.

The Capgras syndrome (CS) is a rare psychiatric disorder. CS is classified as a delusional misidentification syndrome. Initially, CS was described in paranoid schizophrenia and schizoaffective disorders.