Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.

Background Integrin α7β1 is a major laminin receptor in skeletal and cardiac muscle. In skeletal muscle, integrin α7β1 plays an important role during muscle development and has been described as an important modifier of skeletal muscle diseases. The integrin α7β1 is also highly expressed in the heart, but its precise role in cardiac function is unknown.

Deep Brain Stimulation of the Nucleus Basalis of Meynert for Parkinson's Disease Dementia: A 36 Months Follow Up Study.

Background: Degeneration of the nucleus basalis of Meynert (NBM) and cortical cholinergic dysfunction are hallmarks of Parkinson's disease dementia (PDD). There is no effective therapy for PDD. Deep brain stimulation of the NBM (NBM-DBS) has been trialed as a potential treatment.

How Do I Find Clues About Where Myoclonus Is Originating?

Myoclonus is defined as a brief and jerky shock-like involuntary movement caused by abrupt muscle contraction or sudden cessation of ongoing muscular activity. Myoclonus can be generated by abnormal activity in different parts of the nervous system, both peripheral and central, including cortical and subcortical structures. According to the presumed neural generator, myoclonus is classified as cortical, subcortical (including myoclonus-dystonia and brainstem/reticular myoclonus), spinal (including segmental spinal and propriospinal myoclonus), and peripheral.

Neuropsychiatric Features of Punding and Hobbyism in Parkinson's Disease.

Background: Little is known about the cognitive and neuropsychiatric profile associated with punding and hobbyism in Parkinson's disease (PD).

Objective: To compare the clinical and neuropsychological features of PD patients with punding and hobbyism to PD controls.

Methods: The Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale (QUIP-RS) was used as a screening tool, and a structured interview was used to diagnose punding/hobbyism.

Laboratory-Supported Multiple System Atrophy beyond Autonomic Function Testing and Imaging: A Systematic Review by the MoDiMSA Study Group.

Background: Neuroimaging has been used to support a diagnosis of possible multiple system atrophy (MSA). Only blood pressure changes upon standing are included in the second consensus criteria but other autonomic function tests (AFT) are also useful to diagnose widespread and progressive autonomic failure typical of MSA. Additional diagnostic tools are of interest to improve accuracy of MSA diagnosis.

Can Autonomic Testing and Imaging Contribute to the Early Diagnosis of Multiple System Atrophy? A Systematic Review and Recommendations by the Movement Disorder Society Multiple System Atrophy Study Group.

Background: In the current consensus diagnostic criteria, the diagnosis of probable multiple system atrophy (MSA) is based solely on clinical findings, whereas neuroimaging findings are listed as aid for the diagnosis of possible MSA. There are overlapping phenotypes between MSA-parkinsonian type and Parkinson's disease, progressive supranuclear palsy, and dementia with Lewy bodies, and between MSA-cerebellar type and sporadic adult-onset ataxia resulting in a significant diagnostic delay and misdiagnosis of MSA during life.

Objectives: In light of an ongoing effort to revise the current consensus criteria for MSA, the Movement Disorders Society Multiple System Atrophy Study Group performed a systematic review of original articles published before August 2019.

Characterizing White Matter in Huntington's Disease.

Background: Investigating early white matter (WM) change in Huntington's disease (HD) can improve our understanding of the way in which disease spreads from the striatum.

Objectives: We provide a detailed characterization of pathology-related WM change in HD. We first examined WM microstructure using diffusion-weighted imaging and then investigated both underlying biological properties of WM and products of WM damage including iron, myelin plus neurofilament light, a biofluid marker of axonal degeneration-in parallel with the mutant huntingtin protein.

Cognitive Impairment Before Atrial Fibrillation-Related Ischemic Events: Neuroimaging and Prognostic Associations.

Background It is likely that a proportion of poststroke cognitive impairment is sometimes attributable to unidentified prestroke decline; prestroke cognitive function is also clinically relevant because it is associated with poor functional outcomes, including death. We investigated the radiological and prognostic associations of preexisting cognitive impairment in patients with ischemic stroke or transient ischemic attack associated with atrial fibrillation. Methods and Results We included 1102 patients from the prospective multicenter observational CROMIS-2 (Clinical Relevance of Microbleeds in Stroke 2) atrial fibrillation study.

Neural correlates of early cognitive dysfunction in Parkinson's disease.

Objective: Dementia is a common and feared aspect of Parkinson's disease but there are no robust predictors of cognitive outcome. Visuoperceptual deficits are linked to risk of dementia in Parkinson's disease but whether they predict cognitive change is not known, and the neural substrates of visuoperceptual dysfunction in Parkinson's have not yet been identified.

Methods: We compared patients with Parkinson's disease and unaffected controls who underwent BOLD fMRI while performing our previously validated visuoperceptual task and tested how functional connectivity between task-specific regions and the rest of the brain differed between patients who performed well and poorly in the task.

Brachial Neuritis After Botulinum Toxin Injections for Cervical Dystonia: A Need for a Reappraisal?

Background: Brachial neuritis has previously been described as a rare occurrence in patients receiving botulinum toxin for cervical or writing/focal arm dystonia.

Methods: We report four cases of patients with a long history of cervical dystonia treated with botulinum toxin injections.

Results: All patients developed pain and muscular weakness around the shoulder, with EMG studies suggesting brachial neuritis.

How Do I Evaluate and Inject for Writer's Cramp?

Writer's cramp is a disabling focal dystonia, often accompanied by tremor, for which botulinum toxin injections are now the therapy of choice. However, the success of this treatment relies on the correct clinical selection of muscles responsible for the dystonic movements and the subsequent accurate administration of botulinum toxin into what are often very small and difficult to palpate muscles. In order to obtain the best possible outcomes, and to minimize side effects, it is necessary to use guidance from ultrasound or electromyography (EMG).

Cardiovascular Risk Factors and White Matter Hyperintensities: Difference in Susceptibility in South Asians Compared With Europeans.

Background Cardiovascular risk factors vary between ethnicities but little is known about their differential effects on white matter hyperintensities ( WMH ), an indicator of brain aging and burden of cerebrovascular disease. Methods and Results Brain magnetic resonance imaging scans from 213 people of South Asian and 256 of European ethnicity (total=469) were analyzed for global and regional WMH load. Associations with cardiovascular risk factors and a composite cardiovascular risk score (National Cholesterol Education Programme Adult Treatment Panel III) were compared by ethnicity, diabetes mellitus, smoking, and hypertension status.

Predictors of response to opicinumab in acute optic neuritis.

Objective: The objective of this study was to evaluate prespecified and post hoc analyses in RENEW subgroups to identify participants more likely to benefit from opicinumab.

Methods: RENEW assessed the efficacy/safety of opicinumab versus placebo in participants with a first unilateral acute optic neuritis (AON) episode. Difference in visual evoked potential (VEP) latency of the affected eye at 24 weeks versus the fellow eye at baseline was the primary endpoint.

Archetypal mutations frequent in public exome: implications for CADASIL.

Objective: To determine the frequency of distinctive EGFr cysteine altering mutations in the 60,706 exomes of the exome aggregation consortium (ExAC) database.

Methods: ExAC was queried for mutations distinctive for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), namely mutations leading to a cysteine amino acid change in one of the 34 EGFr domains of NOTCH3. The genotype-phenotype correlation predicted by the ExAC data was tested in an independent cohort of Dutch CADASIL patients using quantified MRI lesions.

The right and the wrong with epilepsy and her science.

This is a commentary and an opinion paper attempting a critical reassessment of the methods and practices of epilepsy research as we see it. The enormous progress in the field of epilepsy in recent years is a cause of celebration. Advances have been made on most fronts, and the position of patients with epilepsy in society has greatly improved.

A Retrospective Evaluation of the Frequency of Impulsive Compulsive Behaviors in Parkinson's Disease Patients Treated with Continuous Waking Day Apomorphine Pumps.

Background: Impulsive compulsive behaviors (ICBs) can have a deleterious impact on the lives of patients with PD with orally active dopamine agonist treatment recognized as the greatest risk factor. However, the relationship between subcutaneous administration of the dopamine agonist, apomorphine, and impulsive compulsive behaviors is unknown.

Methods: We conducted a retrospective analysis of 28 advanced PD patients treated with subcutaneous waking day apomorphine ambulatory minipumps at the National Hospital for Neurology and Neurosurgery (London, UK).

Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎.

Neurodegeneration with brain iron accumulation (NBIA) mostly has its disease onset in childhood, adolescence, or early adulthood and usually presents with predominant bulbar and axial dystonia along with signs such as spasticity, indicating an involvement of additional neurological systems. Because of their early onset and presentation with a combination of dystonia plus other neurological symptoms, they are usually not considered as differential diagnosis for late-onset isolated (idiopathic) craniocervical dystonia. In this case series, we present 4 genetically proven cases of NBIA (including neuroferritinopathy, pantothenate-kinase-associated neurodegeneration, and aceruloplasminemia) with late disease onset, which resembled isolated adult-onset craniocervical dystonia at disease onset.

PAX6, brain structure and function in human adults: advanced MRI in aniridia.

Objective: PAX6 is a pleiotropic transcription factor essential for the development of several tissues including the eyes, central nervous system, and some endocrine glands. Recently it has also been shown to be important for the maintenance and functioning of corneal and pancreatic tissues in adults. We hypothesized that PAX6 is important for the maintenance of brain integrity in humans, and that adult heterozygotes may have abnormalities of cortical patterning analogous to those found in mouse models.

Revisiting the Syndrome of "Obsessional Slowness".

Background: Obsessional slowness (OS) denotes a rare condition of disablingly slow motor performance. It was originally described in patients with obsessive-compulsive disorder as a "primary" condition; however, subsequent reports have included heterogeneous clinical populations. We wished to reassess patients with this diagnosis at our own institution and also revisit the literature to provide an overview of this condition.