Differentiating Essential and Dystonic Head Tremor: Exploring Arm Position Effects.

Background: Head tremor poses diagnostic problems, especially when present as an isolated or predominant symptom.

Objectives: To assess how maneuvers activating upper limb postural tremor can help differentiate head tremor in essential tremor (ET) from dystonic tremor (DT) in cervical dystonia.

Methods: 48 patients with head tremor (25 ET, 23 DT), underwent clinical examination and accelerometric evaluation of head and upper limb tremor during routine tremor-inducing tasks.

Essential and dystonic head tremor: More similarities than differences.

Introduction: Head tremor is a common symptom of essential tremor (ET) and cervical dystonia (CD). In clinical practice, it is often difficult to distinguish between these two conditions, especially in cases where head tremor predominates.

Objectives: To investigate which clinical and instrumental methods best differentiate ET and CD in patients with head tremor.

Is retina affected in Huntington's disease? Is optical coherence tomography a good biomarker?

Aim Of The Study: Comparative cross-sectional study of retinal parameters in Huntington's disease and their evaluation as marker of disease progression.

Clinical Rationale For The Study: Huntington's disease (HD) is a neurodegenerative disorder with dominant motor and neuropsychiatric symptoms. Involvement of sensory functions in HD has been investigated, however studies of retinal pathology are incongruent.

Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.

Introduction: Next-generation sequencing is now used on a routine basis for molecular testing but studies on copy-number variant (CNV) detection from next-generation sequencing data are underrepresented. Utilizing an existing whole-exome sequencing (WES) dataset, we sought to investigate the contribution of rare CNVs to the genetic causality of dystonia.

Methods: The CNV read-depth analysis tool ExomeDepth was applied to the exome sequences of 953 unrelated patients with dystonia (600 with isolated dystonia and 353 with combined dystonia; 33% with additional neurological involvement).

Monogenic variants in dystonia: an exome-wide sequencing study.

Background: Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes (isolated or combined dystonia with other neurological involvement). However, our understanding of its aetiology is still incomplete. We aimed to elucidate the monogenic causes for the major clinical categories of dystonia.

Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel Variant.

Background: The aim of the study was to identify the molecular genetic cause of two different Mendelian traits with ocular involvement present in the members of a single consanguineous Czech Roma family.

Methods: We have performed ocular examination and review of medical records in two individuals diagnosed with nanophthalmos (proband and her father) and one individual followed for bilateral congenital cataract and microcornea (uncle of the proband). DNA of subjects with nanophthalmos was analysed by exome sequencing.

Characterizing vocal tremor in progressive neurological diseases via automated acoustic analyses.

Objective: Voice tremor represents a common but frequently overlooked clinical feature of neurological disease. Therefore, we aimed to quantitatively and objectively assess the characteristics of voice tremor in a large sample of patients with various progressive neurological diseases.

Methods: Voice samples were acquired from 240 patients with neurological disease and 40 healthy controls.

Eye movement abnormalities are associated with brainstem atrophy in Wilson disease.

Backgrounds: This study aims to characterize eye movement abnormalities in Wilson disease and examine their association with the degree of brainstem atrophy.

Methods: Twenty patients (10 males, mean age 46.8, SD 8.

Relations of non-motor symptoms and dopamine transporter binding in REM sleep behavior disorder.

The aim of this study was to evaluate associations of motor and non-motor symptoms with dopamine transporter binding in prodromal stage of synucleinopathies. We examined 74 patients with idiopathic REM sleep behavior disorder (RBD), which is a prodromal synucleinopathy, and 39 controls using Movement Disorders Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), Montreal Cognitive Assessment, University of Pennsylvania Smell Identification Test (UPSIT), Farnsworth-Munsell 100 hue test, orthostatic test, Scales for Outcomes in PD-Autonomic, Beck depression inventory-II, State-Trait Anxiety Inventory, and video-polysomnography. Electromyographic muscle activity during REM sleep was quantified according to Sleep Innsbruck-Barcelona criteria.

Eye movements in idiopathic rapid eye movement sleep behaviour disorder: High antisaccade error rate reflects prefrontal cortex dysfunction.

Abnormalities of eye movements have been reported in patients with Parkinson's disease (PD). However, it is unclear if they occur in the prodromal stage of synucleinopathy represented by idiopathic rapid eye movement sleep behaviour disorder (iRBD). We thus aimed to study eye movements in subjects with iRBD and in de novo PD, to assess if their abnormalities may serve as a clinical biomarker of neurodegeneration.

Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts.

There was a spacing error in the initial online publication, and there were errors in the Acknowledgments section. The original article has been updated.

General and selective brain connectivity alterations in essential tremor: A resting state fMRI study.

Although essential tremor is the most common movement disorder, there is little knowledge about the pathophysiological mechanisms of this disease. Therefore, we explored brain connectivity based on slow spontaneous fluctuations of blood oxygenation level dependent (BOLD) signal in patients with essential tremor (ET). A cohort of 19 ET patients and 23 healthy individuals were scanned in resting condition using functional magnetic resonance imaging (fMRI).

Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.

A bilaterally blind woman, with a three generation family history of autosomal dominant congenital cataracts, variably associated with iris colobomata and microcornea, sought preconception genetic consultation. Whole-exome sequencing was performed in three affected family members, one unaffected first degree relative, and one spouse. The sequence variant c.

Intermittent bilateral coherence in physiological and essential hand tremor.

Objective: To investigate the prevalence and the temporal structure of bilateral coherence in physiological (PT) and essential (ET) hand tremor.

Methods: Triaxial accelerometric recordings from both hands in 30 healthy subjects and 34 ET patients were analyzed using spectral coherence and wavelet coherence methods. In 12 additional healthy subjects, the relation between the hand tremor and the chest wall acceleration was evaluated using partial coherence analysis.

Comparison of transcranial sonography-magnetic resonance fusion imaging in Wilson's and early-onset Parkinson's diseases.

Introduction: Wilson's disease (WD) is a hereditary disorder caused by ATP7B mutations resulting in systemic copper accumulation. WD may manifest as early-adulthood parkinsonism; and atypical cases may be difficult to distinguish from early-onset Parkinson's disease (EO-PD), a neurodegenerative disorder with onset ≤40 years of age. The aim of our study was to compare transcranial sonography (TCS)-magnetic resonance fusion imaging in WD and EO-PD and examine whether TCS can provide clinically useful information.

Quantitative assessment of motor speech abnormalities in idiopathic rapid eye movement sleep behaviour disorder.

Objective: Patients with idiopathic rapid eye movement sleep behaviour disorder (RBD) are at substantial risk for developing Parkinson's disease (PD) or related neurodegenerative disorders. Speech is an important indicator of motor function and movement coordination, and therefore may be an extremely sensitive early marker of changes due to prodromal neurodegeneration.

Methods: Speech data were acquired from 16 RBD subjects and 16 age- and sex-matched healthy control subjects.

Changes of retina are not involved in the genesis of visual hallucinations in Parkinson's disease.

Parkinson's disease (PD) is characterized by motor and nonmotor symptoms. Nonmotor symptoms include primarily visual hallucinations (VH). The aim of our study was to establish whether patients with PD and visual hallucinations (PDH+) have structural changes of retina detected by an optical coherence tomography (OCT) in comparison with PD patients without visual hallucinations (PDH-).

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

Purpose: To identify the underlying molecular genetic cause in a Czech family with optic atrophy, deafness, ptosis, ophthalmoplegia, polyneuropathy and ataxia transmitted as an autosomal dominant trait.

Methods: Ophthalmological and neurological examination followed by molecular genetic analyses.

Results: Seven family members were clinically affected.

Disorders of balance and gait in essential tremor are associated with midline tremor and age.

Disorders of balance and gait have been observed in patients with essential tremor (ET), but their association with tremor severity remains unclear. This study aimed to evaluate postural instability and gait changes in ET patients and to investigate their relationship to tremor characteristics with regard to cerebellar dysfunction as a possible common pathogenetic mechanism in ET. Thirty ET patients (8F, mean (SD) age 55.

Biomarkers demonstrate increased consumption, but not abuse, of ethanol in essential tremor.

Ethanol is known to improve tremor in a proportion of patients with essential tremor. Increased incidence of alcoholism has been suspected in essential tremor patients; however, no objective evaluation has been performed using laboratory markers to date. Data on alcohol intake in the last 30 days were acquired in 95 essential tremor patients and 35 healthy controls.

Validation of a new tool for automatic assessment of tremor frequency from video recordings.

We present a validation study for TremAn--a tool for automatic detection of tremor and measurement of its frequency from video recordings. To assess the validity of TremAn we designed a study consisting of tremor assessment from video, by accelerometry and by clinical evaluation using Fahn-Tolosa-Marin scale. 26 patients with essential tremor and 5 healthy volunteers underwent the examination in four standardized positions with focus on the hand tremor.