Rest tremor in Parkinson's disease: body distribution and time of appearance

Objective To assess body distribution and timing of appearance of rest tremor in Parkinson's disease. Methods Information was obtained by a computerized database containing historical information collected at the first visit and data collected during the subsequent follow-up visits. Information on rest tremor developed during the follow-up could be therefore obtained by our own observation in a proportion of patients. Results Among 289 patients, rest tremor was reported at disease onset in 65.4% of cases and detected at last follow-up examination in 74.4% of patients. Analysis of patients who did not report rest tremor at disease onset indicated that 26% of such patients (9% in the overall population) manifested rest tremor over the disease course. Rest tremor spread to new sites in 39% of patients who manifested rest tremor at disease onset. Regardless of tremor presentation at disease onset or during the follow-up, upper limb was the most frequent tremor localization. Over the follow-up, rest tremor developed faster in the upper limb than in other body sites. The risk of developing rest tremor during the follow-up was not affected by sex, side of motor symptom onset and site of tremor presentation. However, age of disease onset > 63 years was associated with an increased risk of rest tremor spread. Conclusions This study provides new information about body distribution and timing of rest tremor appearance during the course of early stages of Parkinson's disease that may help clinicians in patients' counselling

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.MethodsIn a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations.ResultsAll anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluation of MWS to date, we define its clinical evolution occurring with age and derive suggestions for patient management. Furthermore, we observe that its severity correlates with the kind of ZEB2 variation involved, ranging from ZEB2 locus deletions, associated with severe phenotypes, to rare nonmissense intragenic mutations predicted to preserve some ZEB2 protein functionality, accompanying milder clinical presentations.ConclusionKnowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.221

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

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluati

Current and investigated alternatives to botulinum toxin for managing blepharospasm

Introduction: Benign essential blepharospasm (BEB) is an adult-onset focal dystonia characterized by involuntary spasms of the orbicularis oculi (OO) muscle. BEB typically develops in the fifth to sixth decade, has a variable female preponderance, and a tendency to spread to adjacent body regions. Idiopathic BEB is thought to be a multifactorial disorder resulting from the contribution of both environmental and genetic factors. To date, BEB treat- ment is largely based on botulinum A toxin (BTX). Areas covered: This article summarizes current knowledge on the therapeutic approaches that can be proposed to BEB patients who are truly unresponsive to BTX. Current and investigated alternatives to BTX can be included in the following categories: i) alternative therapeutic weakening of the OO muscle; ii) treatments of ophtalmological complaints; and iii) therapeutic interven- tions on central nervous system mechanisms underlying BEB. Expert opinion: Therapeutic strategies to manage BEB of patients who are truly unresponsive to BTX are very limited. Currently available treatments include myectomy, oral medication and deep brain stimulation. Experimental therapeutics include topical acetyl hexapeptide-8, a promising new drug for extending the duration of action of BTX, and transcranial magnetic stimula- tion. At present, the choice of the best treatment strategy, including medical, surgical and non-invasive treatments remains largely empirical and depend- ing on existing reports of toxicity rather than efficacy

When the Benefit is Unexpected: Improvement in Nystagmus During Cannabinoid Treatmen

A 40-year-old Italian man was diagnosed with multiple sclerosis through symptoms of weakness in the lower limbs, nystagmus and oscillopsia confirmed by neurological assessment. Vision disturbances progressively worsened, becoming disabling for the patient. No proven treatment was effective. However, when the patient started therapy with delta-9-tetrahydrocannabinol/cannabidiol (nabiximols), he noticed a significant improvement in nystagmus, as well as in spasticity

Disease modeling in functional movement disorders

Introduction: The mechanisms underlying functional movement disorders are poorly known. We examined whether experience of a movement disorder model in the family and/or the friendships contributes to functional movement disorders. Methods: The hypothesis was tested in a caseecontrol study including 33 patients with functional movement disorders and 66 age- and sex-matched patients with organic movement disorders and using a conditional logistic multivariable analysis (adjusted by age, education, disease duration, chronic medical illnesses and clinical phenotype). Results: Case-control comparison yielded a significant association between functional movement dis- orders and exposure to phenotypically congruent movement disorder models (Odds ratio, 3.9, p 1⁄4 0.01), mainly when disease model came from friendships (Odds ratio, 5.9, p 1⁄4 0.04). By contrast no association was found between functional movement disorders and phenotypically different neurological or non neurological disease models. A significant inverse relationship between exposure to a phenotypically concordant movement disorder model and age of disease onset was also observed. Conclusions: These findings support disease modeling as a factor contributing to the phenomenology of functional movement disorders