Non-motor phenotypic subgroups in adult-onset idiopathic, isolated, focal cervical dystonia.

Background: Non-motor symptoms are well established phenotypic components of adult-onset idiopathic, isolated, focal cervical dystonia (AOIFCD). However, improved understanding of their clinical heterogeneity is needed to better target therapeutic intervention. Here, we examine non-motor phenotypic features to identify possible AOIFCD subgroups.

A Case of Myoclonus-Dystonia Responding to Low-frequency Pallidal Stimulation.

Background: High-frequency pallidal stimulation has been shown to improve various types of dystonia, including myoclonus-dystonia.

Case Report: We report a case of epsilon sarcoglycan mutation-negative myoclonus-dystonia with response to low-frequency bilateral pallidal stimulation.

Discussion: Low-frequency pallidal stimulation provides an effective means of treating various dystonias, regardless of genetic status, as in our case, as it provides increased programming options with fewer adverse effects.

Neuropsychiatric characteristics of GBA-associated Parkinson disease.

Mutations in GBA1 are a well-established risk factor for Parkinson disease (PD). GBA-associated PD (GBA-PD) may have a higher burden of nonmotor symptoms than idiopathic PD (IPD). We sought to characterize the relationship between GBA-PD and neuropsychiatric symptoms.

Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports.

Background: "Classic" stiff person syndrome (SPS) features stiffness, anti-glutamic acid decarboxylase (anti-GAD) antibodies, and other findings. Anti-GAD antibodies are also detected in some neurological syndromes (such as ataxia) in which stiffness is inconsistently present. Patients with otherwise "classic" SPS may either lack anti-GAD antibodies or be seropositive for others.

Clinimetric testing of the comprehensive cervical dystonia rating scale.

Introduction: The aim of this study was to test the clinimetric properties of the Comprehensive Cervical Dystonia Rating Scale. This is a modular scale with modifications of the Toronto Western Spasmodic Torticollis Rating Scale (composed of three subscales assessing motor severity, disability, and pain) now referred to as the revised Toronto Western Spasmodic Torticollis Scale-2; a newly developed psychiatric screening instrument; and the Cervical Dystonia Impact Profile-58 as a quality of life measure.

Methods: Ten dystonia experts rated subjects with cervical dystonia using the comprehensive scale.

Secondary orthostatic tremor in the setting of cerebellar degeneration.

Orthostatic tremor (OT) and cerebellar ataxia are uncommon and difficult to treat. We present two patients with OT and cerebellar degeneration, one of whom had spinocerebellar ataxia type 2 and a good treatment response.

Pathophysiology and treatment of alien hand syndrome.

Background: Alien hand syndrome (AHS) is a disorder of involuntary, yet purposeful, hand movements that may be accompanied by agnosia, aphasia, weakness, or sensory loss. We herein review the most reported cases, current understanding of the pathophysiology, and treatments.

Methods: We performed a PubMed search in July of 2014 using the phrases "alien hand syndrome," "alien hand syndrome pathophysiology," "alien hand syndrome treatment," and "anarchic hand syndrome.

Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease.

Mutations in glucosidase, beta, acid (GBA) are associated with cognitive impairment in Parkinson disease (PD) as well as dementia with Lewy bodies. For both of these diseases, dementia and hallucinations are typically treated with cholinesterase inhibitors and antipsychotics. However, in some lysosomal storage disorders certain antipsychotic medications are poorly tolerated.

Disease modification in Parkinson's disease.

Parkinson's disease (PD) is an age-related, progressive, multisystem neurodegenerative disorder resulting in significant morbidity and mortality, as well as a growing social and financial burden in an aging population. The hallmark of PD is loss of dopaminergic neurons of the substantia nigra pars compacta, leading to bradykinesia, rigidity and tremor. Current pharmacological treatment is therefore centred upon dopamine replacement to alleviate symptoms.

Comparison of three tests using the frequency doubling illusion to diagnose glaucoma.

Purpose: The introduction of the FDT perimeter prompted the comparison of three tests employing frequency doubling (FD) stimuli. These measures compared different visual field locations and contrast ranges. Frequency of seeing curves were examined for the method most similar to FDT.

Employing following eye movements to discriminate normal from glaucoma subjects.

We recorded optokinetic nystagmus (OKN) to see if slow phase velocity, duration or other measures were affected by glaucoma. Drifting grating patterns that either weakly or strongly evoked the spatial frequency doubling illusion were employed. Analysis of 68 variables characterizing the OKN revealed that small subsets of these variables were good at discriminating normal from primary open angle glaucoma subjects.

The suppression of testis-brain RNA binding protein and kinesin heavy chain disrupts mRNA sorting in dendrites.

Ribonucleoprotein particles (RNPs) are thought to be key players in somato-dendritic sorting of mRNAs in CNS neurons and are implicated in activity-directed neuronal remodeling. Here, we use reporter constructs and gel mobility shift assays to show that the testis brain RNA-binding protein (TB-RBP) associates with mRNPs in a sequence (Y element) dependent manner. Using antisense oligonucleotides (anti-ODN), we demonstrate that blocking the TB-RBP Y element binding site disrupts and mis-localizes mRNPs containing (alpha)-calmodulin dependent kinase II (alpha)-CAMKII) and ligatin mRNAs.

Testing for glaucoma with the frequency-doubling illusion in the whole, macular and eccentric visual fields.

Purpose: The frequency doubling (FD) illusion is the basis for new diagnostic methods for glaucoma. The FD illusion is seen when low spatial frequency grating patterns are contrast modulated at high rates. The present experiments examined which spatial frequencies might be optimal and whether high flicker rates are required.