Chorea

Neurotoxicity is an acknowledged side effect of third and fourth-generation cephalosporins, but its occurrence with ceftriaxone is not widely recognized. This article presents a case involving a 56-year-old woman with multiple comorbidities who sought medical attention after experiencing lipothymia. The initial diagnosis suggested a urinary tract infection with acute kidney failure, leading to the initiation of ceftriaxone and hemodialysis. Subsequently, the patient exhibited a progressive deterioration of her neurological state, characterized by agitation and chorea...

OBJECTIVES: Since the release of vaccines against COVID-19, there have been reports of vaccine-related neurologic complications. This study aimed to create a descriptive systematic review of movement disorders associated with COVID-19 vaccines. METHODS: We described the demographics, clinical presentation, management, outcomes, and proposed patho-mechanism. A systematic review was performed according to the PRISMA guidelines. A standardized tool was used to assess the quality of the cases...

The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 adult individuals with SSADHD from the patient registry of the International Working Group on Neurotransmitter related Disorders (iNTD) were studied with in silico analyses, pathogenicity scores and molecular modeling of ALDH5A1 variants. Leading initial symptoms, with onset in infancy, were developmental delay and hypotonia...

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OBJECTIVE: Movement disorders (MDs) are common in anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis but are poorly studied. This study aimed to investigate the clinical characteristics of MDs and the clinical differences between patients with and without MDs in anti-NMDAR encephalitis. METHODS: A retrospective study was conducted on patients with anti-NMDAR encephalitis who were first diagnosed and treated in the First People's Hospital of Yunnan Province from January 2017 to September 2022...

AIMS: Huntington's disease (HD) is a progressive neurodegenerative disorder with heterogeneous clinical manifestations. Identifying distinct clinical clusters and their relevant biomarkers could elucidate the underlying disease pathophysiology. METHODS: Following the Enroll-HD program initiated in 2018.09, we have recruited 104 HD patients (including 21 premanifest) and 31 health controls at Beijing Tiantan Hospital. Principal components analysis and k-means cluster analysis were performed to determine HD clusters...

New onset movement disorders are a common clinical problem in pediatric neurology and can be infectious, inflammatory, metabolic, or functional in origin. Encephalitis is one of the more important causes of new onset movement disorders, and movement disorders are a common feature (~25%) of all encephalitis. However, all encephalitides are not the same, and movement disorders are a key diagnostic feature that can help the clinician identify the etiology of the encephalitis, and therefore appropriate treatment is required...

Paraneoplastic movement disorders are diverse autoimmune neurological illnesses occurring in the context of systemic cancer, either in isolation or as part of a multifocal neurological disease. Movement phenomena may be ataxic, hypokinetic (parkinsonian), or hyperkinetic (myoclonus, chorea, or other dyskinetic disorders). Some disorders mimic neurodegenerative or hereditary illnesses. The subacute onset and coexisting nonclassic features of paraneoplastic disorders aid distinction. Paraneoplastic autoantibodies provide further information regarding differentiating cancer association, disease course, and treatment responses...

INTRODUCTION: Huntington disease (HD) is a progressive disorder characterized by significant neurodegeneration that results in severe neuropsychiatric symptoms and disordered movement. Repetitive transcranial magnetic stimulation (rTMS) is a noninvasive treatment that has been used in major depressive disorder (MDD) with great success. CASE PRESENTATION: We present a case of a patient with newly diagnosed HD, persistent MDD with suicidal ideation, and generalized anxiety disorder who was treated with rTMS and had sustained significant improvement of her mood disorder with additional improvement of her movement disorder...

UNLABELLED: Paroxysmal Hypnogenic Dyskinesia (PHD) is a rare movement disorder characterized by involuntary movements, including chorea, athetosis, ballismus, and dystonia, which occur during the Non-Rapid Eye Movement (NREM) sleep stage. Therefore, the diagnosis of PHD is highly crucial due to the presence of differential diagnoses such as epilepsy and other sleep disorders. Although numerous mutations have been identified, the etiology of PHD, which arises from dysregulation in basal ganglia functions, remains unclear...

Loss of dopamine neurons causes motor deterioration in Parkinson's disease patients. We have previously reported that in addition to acute motor impairment, the impaired motor behavior is encoded into long-term memory in an experience-dependent and task-specific manner, a phenomenon we refer to as aberrant inhibitory motor learning. Although normal motor learning and aberrant inhibitory learning oppose each other and this is manifested in apparent motor performance, in the present study, we found that normal motor memory acquired prior to aberrant inhibitory learning remains preserved in the brain, suggesting the existence of independent storage...

OBJECTIVE: To assess the clinical spectrum, treatment, and outcome of children with autoimmune encephalitis (AE). STUDY DESIGN: Descriptive study. Place and Duration of the Study: Department of Paediatrics, The Aga Khan University Hospital, Karachi, Pakistan, from January 2017 to December 2021. METHODOLOGY: Medical records of children with a diagnosis of AE were reviewed for clinical features, treatment details, and outcomes. Outcome was defined as good (0-2) or poor (3-6) based on a modified Rankin Scale (mRS) score at 3-month follow-up...

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Cyclic nucleotide phosphodiesterase (PDE) enzymes catalyze the breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP), which act as intracellular second messengers for signal transduction pathways and modulate various processes in the central nervous system. Recent discoveries that mutations in genes encoding different PDEs, including PDE10A, are responsible for rare forms of chorea in children led to the recognition of an emerging role of PDEs in the field of pediatric movement disorders...

BACKGROUND Hemiballismus is the most severe form of chorea and is a hyperkinetic disorder characterized by involuntary, high-amplitude movements of the ipsilateral arm and leg, due to lesions of the contralateral side of the central nervous system. Ischemic or hemorrhagic strokes and nonketotic hyperglycemia are predominant etiologies of hemiballismus. Case reports highlighting hemiballismus associated with temporal and parietal lobe infarcts have been published, although research of frontal lobe involvement is limited...

Genetic testing has become a valuable diagnostic tool for movement disorders due to substantial advancements in understanding their genetic basis. However, the heterogeneity of movement disorders poses a significant challenge, with many genes implicated in different subtypes. This paper aims to provide a neurologist's perspective on approaching patients with hereditary hyperkinetic disorders with a focus on select forms of dystonia, paroxysmal dyskinesia, chorea, and ataxia. Age at onset, initial symptoms, and their severity, as well as the presence of any concurrent neurological and non-neurological features, contribute to the individual clinical profiles of hereditary non-parkinsonian movement disorders, aiding in the selection of appropriate genetic testing strategies...

Huntington's disease (HD) is a currently incurable neurogenerative disorder and is typically characterized by progressive movement disorder (including chorea), cognitive deficits (culminating in dementia), psychiatric abnormalities (the most common of which is depression), and peripheral symptoms (including gastrointestinal dysfunction). There are currently no approved disease-modifying therapies available for HD, with death usually occurring approximately 10-25 years after onset, but some therapies hold promising potential...

BACKGROUND: Wilson's disease (WD) is not an uncommon genetic disease in clinical practice. However, the current WD therapies have limitations. The effectiveness of stem cell therapy in treating WD has yet to be verified, although a few animal studies have shown that stem cell transplantation could partially correct the abnormal metabolic phenotype of WD. In this case report, we present the therapeutic effect of human amniotic fluid containing stem cells in one WD patient. CASE PRESENTATION: A 22-year-old Chinese woman was diagnosed with WD 1 year ago in 2019...

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INTRODUCTION: Huntington's disease (HD) is a rare autosomal dominant disease caused by the expansion of CAG triplets in the gene that encodes huntingtin. There are earlier symptoms' onset in offspring due to the phenomenon of anticipation. The clinical features of childhood-onset HD, before age 10 years, differs from adult-onset form. It is characterized by motor impairment, behavioral difficulties and delay or regression in areas of development; while chorea is rarely seen. In this case we describe clinical aspects of a patient with childhood-onset Huntington's disease...