Movement disorders parkinson's tremor Chorea

BACKGROUND AND PURPOSE: HIBCH and ECHS1 genes encode two enzymes implicated in the critical steps of valine catabolism, 3-hydroxyisobutyryl-coenzyme A (CoA) hydrolase (HIBCH) and short-chainenoyl-CoA hydratase (ECHS1), respectively. HIBCH deficiency (HIBCHD) and ECHS1 deficiency (ECHS1D) generate rare metabolic dysfunctions, often revealed by neurological symptoms. The aim of this study was to describe movement disorders spectrum in patients with pathogenic variants in ECHS1 and HIBC...

Sex and gender-based differences in epidemiology, clinical features and therapeutical responses are emerging in several movement disorders, even though they are still not widely recognized. In this chapter, we summarize the most relevant evidence concerning these differences in Parkinson's disease, essential tremor, dystonia and chorea. Indeed, both sex-related biological (hormonal levels fluctuations) and gender-related variables (socio-cultural and environmental factors) may differently impact symptoms manifestation and severity, phenotype and disease progression of movement disorders on men and women...

BACKGROUND: Niemann-Pick type C (NPC) is an autosomal recessive progressive neurodegenerative disorder caused by mutations in the NPC1 or NPC2 genes. Patients with this disorder have variable phenotypic presentations that often include neuropsychiatric manifestations, cognitive decline, and movement disorders. There is considerable interpatient variation in movement disorders, with limited quantitative measurements describing the movements observed. Objective measurements using wearable sensors provide clinically applicable monitoring of patients with Parkinson's disease, and hence may be utilized in patients with NPC...

Movement disorders are neurological conditions characterized by involuntary motor movements, such as dystonia, ataxia, chorea myoclonus, tremors, Huntington's disease (HD), and Parkinson's disease (PD). It is classified into two categories: hypokinetic and hyperkinetic movements. Globally, movement disorders are a major cause of death. The pathophysiological process is initiated by excessive ROS generation, mitochondrial dysfunction, neuroinflammation, and neurotransmitters imbalance that lead to motor dysfunction in PD and HD patients...

BACKGROUND: Prion diseases cause a range of movement disorders involving the cortical, extrapyramidal, and cerebellar systems, and yet there are no large systematic studies of their prevalence, features, associations, and responses to commonly used treatments. OBJECTIVES: We sought to describe the natural history and pharmacological management of movement disorders in prion diseases. METHODS: We studied the serial examination findings, investigation results, and symptomatic treatment recorded for 700 patients with prion diseases and 51 mimics who had been enrolled onto the prospective longitudinal National Prion Monitoring Cohort study between 2008 and 2020...

PURPOSE OF REVIEW: This article reviews the recognition and management of cognitive syndromes in movement disorders, including those with parkinsonism, chorea, ataxia, dystonia, and tremor. RECENT FINDINGS: Cognitive and motor syndromes are often intertwined in neurologic disorders, including neurodegenerative diseases such as Parkinson disease, atypical parkinsonian syndromes, Huntington disease, and other movement disorders. Cognitive symptoms often affect attention, working memory, and executive and visuospatial functions preferentially, rather than language and memory, but heterogeneity can be seen in the various movement disorders...

BACKGROUND: Multiple sclerosis (MS), a subset of chronic primary inflammatory demyelinating disorders of the central nervous system, is closely associated with various movement disorders. These disorders may be due to MS pathophysiology or be coincidental. This review describes the full spectrum of movement disorders in MS with their possible mechanistic pathways and therapeutic modalities. METHODS: The authors conducted a narrative literature review by searching for 'multiple sclerosis' and the specific movement disorder on PubMed until October 2021...

Movement disorders are commonly encountered by the general practitioner and can be divided into 2 broad categories: hypokinetic and hyperkinetic. The former involves loss or slowing of movement, whereas the latter is characterized by excessive and involuntary movements. A careful history will guide the examiner to the appropriate category of movement disorders. As no laboratory test or radiologic study is confirmatory for these disorders, diagnosis must be made clinically and the neurologic examination is indispensable...

BACKGROUND AND PURPOSE: No previous study has assessed the frequency and clinical-radiological characteristics of patients with diabetes mellitus (DM) and acute onset nonchoreic and nonballistic movements. We conducted a prospective study to investigate the spectrum of acute onset movement disorders in DM. METHODS: We recruited all the patients with acute onset movement disorders and hyperglycemia who attended the wards of three hospitals in West Bengal, India from August 2014 to July 2021...

Oculomotor assessment is an essential element of the neurological clinical examination and is particularly important when evaluating patients with movements disorders. Most of the brain is involved in oculomotor control, and thus many neurological conditions present with oculomotor abnormalities. Each of the different classes of eye movements and their features can provide important information that can facilitate differential diagnosis. This educational review presents a clinical approach to eye movement abnormalities that are commonly seen in parkinsonism, ataxia, dystonia, myoclonus, tremor, and chorea...

We describe a man in his 30s who presented with paroxysmal right-sided dyskinesias of the arm and neck, misdiagnosed with drug-resistant focal epilepsy. Two months earlier he had undergone surgery for chronic sinusitis. Immediately after this procedure, he developed hemiparesis, hemiataxia, paresthesias and disturbances in verbal fluency. Cranial MRI revealed a disruption of the left lamina cribrosa and an intracerebral injury resembling a branch canal spanning to the left dorsal third of the thalamus. Single-photon emission tomography imaging demonstrated malperfusion of the left ventral thalamus, left-sided cortex and right cerebellar hemisphere...

The etiologies for adults presenting with hemiballism are usually acquired lesions in the contralateral side of subthalamic nucleus. We present a 71-year-old woman with progressive onset of left hemiballism, orolingual dyskinesia and cognitive decline for 3 years. A rare genetic etiology was the final diagnosis for this index patient. In this movement disorder round, we describe our approach to this clinical presentation, and discuss the phenomenon and radiological features of this rare genetic disorder.

BACKGROUND: Movement disorders can be associated with anti-neuronal antibodies. METHODS: We conducted a systematic review of cases with documented anti-neuronal antibodies in serum and/or cerebrospinal fluid published in PubMed before April 1, 2020. Only patients with at least one movement disorder were included. We used random forests for variable selection and recursive partitioning and regression trees for the creation of a data-driven decision algorithm, integrated with expert's clinical feedback...

BACKGROUND: Movement disorders constitute a major burden among the neurological disorders. Overall prevalence and distribution of disorders requiring medical resources remain unknown. OBJECTIVE: To understand the pattern of movement disorders burden in India. MATERIALS AND METHODS: Retrospective electronic database review of new patients attending movement disorders clinics in three cities from 2012 to 2018 was done. RESULTS: 14,561 patients (M:F-9,578:4,983) with mean age at assessment of 60...

BACKGROUND AND PURPOSE: The scientific literature on COVID-19 is increasingly growing. METHODS: In this paper, we review the literature on movement disorders in the context of the COVID-19 pandemic. RESULTS: First, there are a variety of transient movement disorders that may manifest in the acute phase of COVID-19, most often myoclonus, with more than 50 patients described in the literature. New onset parkinsonism, chorea, and tic-like behaviours have also been reported...

As neurological complications associated with COVID-19 keep unfolding, the number of cases with COVID-19-associated de novo movement disorders is rising. Although no clear pathomechanistic explanation is provided yet, the growing number of these cases is somewhat alarming. This review gathers information from 64 reports of de novo movement disorders developing after/during infection with SARS-CoV-2. Three new cases with myoclonus occurring shortly after a COVID-19 infection are also presented. Treatment resulted in partial to complete recovery in all three cases...

BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant spinocerebellar ataxia caused by pathological expansion of CAG trinucleotide repeats in the ATN1 gene. Most cases were described in patients from Japanese ancestry who presented with adult-onset progressive cerebellar ataxia associated with cognitive impairment, choreoathetosis and other movement disorders. DRPLA has been rarely described in Brazilian patients. METHODS: We performed a retrospective observational multicentric study including six different Neurology Centers in Brazil...

BACKGROUND: Gastrointestinal (GI) disorders have been thoroughly investigated in hypokinetic disorders such as Parkinson's disease, but much less is known about GI disorders in hyperkinetic movement disorders and ataxia. The aim of this review is to draw attention to the GI disorders that are associated with these movement disorders. METHODS: References for this systematic review were identified by searches of PubMed through May 2020. Only publications in English were reviewed...

OBJECTIVES: Acute movement disorders (AMD) are frequent in neurological and pediatric emergencies. Few studies analyzed AMD in children, none in Tunisia or other African country. The purpose of this study was to describe the peculiarities of AMD in a Tunisian pediatric population with a literature review. METHODS: We conducted a retrospective descriptive study over 8 years including 80 children (sex ratio, 1.05; mean age of onset, 4.8 years) with AMD, followed in tertiary referral Child Neurology Department in North Tunisia...

INTRODUCTION: To guide the neurologist and neurophysiologist with interpretation and implementation of clinical neurophysiological examinations, we aim to provide a systematic review on evidence of electrophysiological features used to differentiate between hyperkinetic movement disorders. METHODS: A PRISMA systematic search and QUADAS quality evaluation has been performed in PubMed to identify diagnostic test accuracy studies comparing electromyography and accelerometer features...