Video Anthology of Movement Disorders Due to Infections in South Asia.

South Asia, encompassing many populous countries including India, Pakistan, and Bangladesh, is home to a wide variety of infectious diseases several of which are disproportionately prevalent, endemic or distinctive to the region. These result in considerable morbidity and mortality, which can be greatly reduced through public-health measures, timely diagnosis and treatment. Some of these infectious diseases have neurological manifestations including movement disorders either due to the pathogen being neuroinvasive or via an immune-mediated response.

Neurology and COVID-19: Acting now. Preparing for Future.

COVID-19 has a wide-ranging and multimodal neurological impact. First, several neurological symptoms and complications are commonly observed in patients with COVID-19. Second, medications and vaccinations used to counter the disease can have secondary neurological effects.

Wilson disease.

Purpose Of Review: The aim of this article is to review recent developments in the areas of the disease features and treatment of Wilson disease, and survey disorders that share its pathophysiology or clinical symptoms.

Recent Findings: Knowledge of the clinical spectrum of Wilson disease has expanded with recognition of patients who present in atypical age groups - patients with very early onset (<5 years) and those in whom symptoms present in mid-to-late adulthood. A disease phenotype with dominant psychiatric features and increased risk of cardiac problems and various sleep disorders have been identified.

Neurological worsening during treatment of an immunocompetent adult with meningitis.

Cryptococcal meningitis is being increasingly described in immunocompetent adults. We describe here a young immuncompetent adult of Indian origin from Ghana, West Africa with cryptococcal meningitis who had several ups and downs during his treatment. First he developed neurologic worsening due to premature transition from intensive to consolidation phase therapy.

Advances in Treatment of Wilson Disease.

Background: Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal. Though treatments for WD have been available since the 1950s, the disease continues to be associated with considerable morbidity and mortality because of missed diagnosis, and delayed or inadequate treatment.

Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.

Aim: To study the effect of anti-copper treatment for survival of hepatic cells expressing different ATP7B mutations in cell culture.

Methods: The most common Wilson disease (WD) mutations p.H1069Q, p.

The effect of zinc and D-penicillamine in a stable human hepatoma ATP7B knockout cell line.

Mutations in the copper (Cu) transporter gene ATP7B, the primary cause of Wilson disease (WD), result in high liver Cu and death of hepatocytes. Cu chelators and zinc salts are the two most important drugs used in the treatment of WD patients; however, the molecular mechanisms of the drugs with regard to ATP7B expression have not been determined. A targeted knockout of ATP7B (KO) was established in the most widely used human hepatoma cell line, HepG2 for molecular studies of the pathogenesis and treatment of the disease.

The Pragmatic Treatment of Wilson's Disease.

Wilson's disease (WD) is a potentially fatal disorder of chronic copper toxicity, primarily affecting the liver and the brain. Judicious treatment can restore health and longevity, even in patients with severe neurological impairment. However, the disease is associated with considerable morbidity and mortality resulting from delay in diagnosis, and difficulty in pacing the medical treatment.

Commonly used gastrointestinal drugs.

This chapter reviews the spectrum and mechanisms of neurologic adverse effects of commonly used gastrointestinal drugs including antiemetics, promotility drugs, laxatives, antimotility drugs, and drugs for acid-related disorders. The commonly used gastrointestinal drugs as a group are considered safe and are widely used. A range of neurologic complications are reported following use of various gastrointestinal drugs.

Update on Wilson disease.

Wilson disease (WD) is an inherited disorder of chronic copper toxicosis characterized by excessive copper deposition in the body, primarily in the liver and the brain. It is a progressive disease and fatal if untreated. Excessive copper accumulation results from the inability of liver to excrete copper in bile.

Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?

Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the phenotypic characterization of the dystonia has been lost. In evaluating patients with NBIAs in our centers, we have observed that action-induced dystonic opisthotonus is a common and characteristic feature of NBIAs.

Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

Wilson disease (WD) is an autosomal recessive disorder resulting from mutations in the ATP7B gene, with over 600 mutations described. Identification of mutations has made genetic diagnosis of WD feasible in many countries. The heterogeneity of ATP7B mutants is, however, yet to be identified in the Indian population.

Stand alone mechanical thrombectomy (with penumbra system) for acute ischemic stroke based on MR imaging: Single center experience.

Background: There is dismal rate of recanalization following intravenous thrombolysis of large vessel occlusive ischemic stroke. Trials on use of mechanical clot retrievers in acute ischemic stroke have used time from onset and clinical deficit at presentation as the main indications for intervention.

Materials And Methods: Retrospective analysis of case records of acute stroke seen between May 2009 and October 2011 was done.

Unusual focal dyskinesias.

This chapter reviews focal dyskinesias that affect a restricted region of the body in isolation. Focal dyskinesias often affect body parts not commonly involved in isolation by movement disorders and are not readily classified into one of the major categories of movement disorders or peripheral nerve excitability syndromes. The clinical features and phenomenology of these "unusual focal dyskinesias" are discussed according to the region affected (ear, lip, chin, jaw, tongue, abdomen, and diaphragm (belly dancer's dyskinesias), back, scapula, and limbs).

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.

Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase-associated neurodegeneration (PKAN)] and 2 (PLA2G6-associated neurodegeneration), neuroferritinopathy, and aceruloplasminaemia. Data on genetically defined Indian-subcontinent NBIA cases are limited. We report 6 patients from the Indian-subcontinent with a movement disorder and MRI basal ganglia iron deposition, compatible with diagnosis of an NBIA syndrome.

A novel Global Assessment Scale for Wilson's Disease (GAS for WD).

Wilson's disease (WD) is an inherited disorder of copper metabolism. Despite being treatable, patients with WD suffer severe disabilities due to delay in initiation and difficulty in monitoring treatment. We propose a two tier, Global Assessment Scale for Wilson's Disease (GAS for WD) that grades the multisystemic manifestations of the disease.

Reversible Parkinsonism and T1W pallidal hyperintensities in acute liver failure.

We report on a young woman who survived acute liver failure (ALF) without liver transplant. During the ALF, she developed a disabling, levodopa-unresponsive, symmetrical Parkinsonism. This was characterized by severe bradykinesia, mild rigidity, mutism, and prominent gait impairment.