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[ADCY5-associated dyskinesia in young children: a case report of a family and an updated review].
Aguilera-Nieto, L, Ferrero-Turrión, J, Mora-Ramírez, MD, Calvo-Medina, R, Ruiz-García, C, Ramos-Fernández, JM
Revista de neurologia. 2020;(2):69-73
Abstract
INTRODUCTION Dyskinesia of the ADCY5 mutation is a rare movement-onset disorder in childhood. It is characterized by isolated chorea movements or associated with myoclonus and dystonia affecting the limbs, neck and face. The low number of patients and families still does not allow an adequate genotype-phenotype relationship. AIMS The case of a child with movement disorders of early onset is presented in a family with three generations of affected members. An updated review of the casuistry and management of this rare disease is made. CASE REPORT A 6-year-old boy referred for language delay and hyperactivity. After six months of follow-up he begins to show chorea movements of predominantly facial and limb roots, especially when waking up. At one year of follow-up, generalized chorea at rest with orofacial involvement and awkward gait begins to show. His family history includes his mother, grandfather, maternal uncle and cousin, who were diagnosed with Meige's syndrome (oromandibular dystonia and periorbital muscles) with choreiform-like movement disorders without affiliation since childhood. The brain study by MRI showed no alterations. A clinical exome targeting movement disorders was performed that discovered the pathogenic mutation in the ADCY5 gene causing autosomal familial dyskinesia. CONCLUSION The c.1126G>A p.A376T mutation shows a natural history with a non-progressive clinical phenotype in three generations of affected members, with childhood debut and response to guanfacine treatment.
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Scurvy: still a threat in the well-fed first world?
Ceglie, G, Macchiarulo, G, Marchili, MR, Marchesi, A, Rotondi Aufiero, L, Di Camillo, C, Villani, A
Archives of disease in childhood. 2019;(4):381-383
Abstract
We report three cases of scurvy in previously healthy children referred to us for leg pain and refusal to walk. All children had no significant medical history, symptoms had started months before and subtly advanced. Two of them presented with gingival hyperplasia and petechiae, another one reported night sweats and gingival bleeding in the past few weeks. Two had vitamin D deficiency, and all had microcytic anaemia (in one case requiring transfusional support). A nutritional screening revealed low or undetectable levels of ascorbic acid. This, along with the clinical and radiological findings, led to a diagnosis of scurvy. Vitamin C supplementation was started with rapid improvement of the children's clinical condition. Scurvy is a rare disease in the 'first world', but there are anecdotal reports of scurvy in children without any of the known risk factors for this condition. In our cases, a selective diet was the only risk factor.
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Movement Disorders in Metabolic Disorders.
Pedroso, JL, Barsottini, OG, Espay, AJ
Current neurology and neuroscience reports. 2019;(2):7
Abstract
PURPOSE OF REVIEW We provide a review of the movement disorders that complicate selected metabolic disorders, including the abnormal movements that may appear during or after their treatment. RECENT FINDINGS Movement disorders may be underrecognized when arising in the context of a broad range of metabolic disorders. Abnormal movements may occur as the initial manifestation of a systemic disease, at any time during its course, or as a result of the medical interventions required for its management. Ascertaining movement phenomenology in acute and subacute presentations may assist in the determination of the specific underlying metabolic disorder. The management of movement disorders associated with metabolic disorders depends on the underlying pathophysiology.
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MRI-based neuroimaging: atypical parkinsonisms and other movement disorders.
Kassubek, J
Current opinion in neurology. 2018;(4):425-430
Abstract
PURPOSE OF REVIEW MRI has become a well established technical tool for parkinsonism both in the diagnostic work-up to differentiate between causes and to serve as a neurobiological marker. This review summarizes current developments in the advanced MRI-based assessment of brain structure and function in atypical parkinsonian syndromes and explores their potential in a clinical and neuroscientific setting. RECENT FINDINGS Computer-based unbiased quantitative MRI analyses were demonstrated to guide in the discrimination of parkinsonian syndromes at single-patient level, with major contributions when combined with machine-learning techniques/support vector machine classification. These techniques have shown their potential in tracking the disease progression, perhaps also as a read-out in clinical trials. The characterization of different brain compartments at various levels of structural and functional alterations can be provided by multiparametric MRI, including a growing variety of diffusion-weighted imaging approaches and potentially iron-sensitive and functional MRI. SUMMARY In case that the recent advances in the MRI-based assessment of atypical parkinsonism will lead to standardized protocols for image acquisition and analysis after the confirmation in large-scale multicenter studies, these approaches may constitute a great achievement in the (operator-independent) detection, discrimination and characterization of degenerative parkinsonian disorders at an individual basis.
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Restless Legs Syndrome and Sleep-Related Movement Disorders.
Trotti, LM
Continuum (Minneapolis, Minn.). 2017;(4, Sleep Neurology):1005-1016
Abstract
PURPOSE OF REVIEW This article provides an update on six sleep-related movement disorders: restless legs syndrome (RLS), periodic limb movement disorder, sleep-related leg cramps, bruxism, rhythmic movement disorder, and propriospinal myoclonus, with an emphasis on RLS. RECENT FINDINGS RLS is a common sensorimotor disorder that impairs quality of life. RLS is frequently comorbid to neurologic, psychiatric, vascular, and inflammatory diseases. Accumulating evidence implicates the pathophysiology of RLS as a state of dopamine dysfunction and iron deficiency that occurs on a background of genetic susceptibility conferred by 6 gene polymorphisms. Multiple treatments approved by the US Food and Drug Administration (FDA) are available. Dopamine agonists and α2δ calcium channel ligands are considered first-line treatments, but these treatments have very different side effect profiles that should be taken into consideration. SUMMARY Sleep-related movement disorders are frequently encountered in clinical practice. For some disorders, particularly RLS and periodic limb movement disorder, our understanding of biology, epidemiology, and treatment is advanced. For others, much work is needed to determine optimal treatment strategies.
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Use of active video gaming in children with neuromotor dysfunction: a systematic review.
Hickman, R, Popescu, L, Manzanares, R, Morris, B, Lee, SP, Dufek, JS
Developmental medicine and child neurology. 2017;(9):903-911
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Abstract
AIM: To examine current evidence on use of active video gaming (AVG) to improve motor function in children with movement disorders including cerebral palsy, developmental coordination disorder, and Down syndrome. METHOD Scopus, MEDLINE, Cochrane Library, EMBASE, and CINAHL were searched. Included papers studied the use of AVG for improving movement-related outcomes in these populations. Parameters studied included health condition, strength of evidence, AVG delivery methods, capacity for individualizing play, outcomes addressed, effectiveness for achieving outcomes, and challenges/limitations. RESULTS The 20 extracted articles varied in quality. Studies involved children with six different conditions using AVG in clinical, home, or school settings for 49 different motor outcomes. Dosage varied in frequency and duration. Choice of games played and difficulty level were therapist determined (n=6) or child controlled (n=14). The most common study limitations were small sample sizes and difficulty individualizing treatment. All articles showed improvement in outcomes with AVG, although differences were not consistently significant compared with conventional therapy. INTERPRETATION Heterogeneity of measurement tools and target outcomes prevented meta-analysis or development of formal recommendations. However, AVG is feasible and shows potential for improving outcomes in this population. Additional investigations of dosing variables, utility as a home supplement to clinical care, and outcomes with larger sample sizes are merited.
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Brain: positron emission tomography tracers beyond [¹⁸F]fluorodeoxyglucose.
Singhal, T, Alavi, A, Kim, CK
PET clinics. 2014;(3):267-76
Abstract
Several PET radiopharmaceuticals beyond FDG have been used to study the physiology and pathophysiology in neurosciences. This article provides a broad overview of some of the commonly studied radiopharmaceuticals for PET imaging in selected neurologic conditions, particularly attempting to study their clinical relevance. Future studies on the use of advanced PET imaging in delineating neural pathophysiology, drug development, and altering patient management and outcomes across the disciplines of neurosciences are needed.
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Nonmotor and extracerebellar features in Machado-Joseph disease: a review.
Pedroso, JL, França, MC, Braga-Neto, P, D'Abreu, A, Saraiva-Pereira, ML, Saute, JA, Teive, HA, Caramelli, P, Jardim, LB, Lopes-Cendes, I, et al
Movement disorders : official journal of the Movement Disorder Society. 2013;(9):1200-8
Abstract
Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this single genetic entity. Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado-Joseph disease. Brain imaging and neuropathologic studies have revealed atrophy of the pons, basal ganglia, midbrain, medulla oblongata, multiple cranial nerve nuclei, and thalamus and of the frontal, parietal, temporal, occipital, and limbic lobes. This review provides relevant information about nonmotor manifestations and extracerebellar symptoms in Machado-Joseph disease. The main nonmotor manifestations of Machado-Joseph disease described in previous data and discussed in this article are: sleep disorders, cognitive and affective disturbances, psychiatric symptoms, olfactory dysfunction, peripheral neuropathy, pain, cramps, fatigue, nutritional problems, and dysautonomia. In addition, we conducted a brief discussion of noncerebellar motor manifestations, highlighting movement disorders. © 2013 Movement Disorder Society.
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Genetics of Parkinson disease and other movement disorders.
Kumar, KR, Lohmann, K, Klein, C
Current opinion in neurology. 2012;(4):466-74
Abstract
PURPOSE OF REVIEW We will review the recent advances in the genetics of Parkinson disease and other movement disorders such as dystonia, essential tremor and restless legs syndrome (RLS). RECENT FINDINGS Mutations in VPS35 were identified as a novel cause of autosomal dominant Parkinson disease using exome sequencing. Next generation sequencing (NGS) was also used to identify PRRT2 mutations as a cause of paroxysmal kinesigenic dyskinesia (DYT10). Using a different technique, that is linkage analysis, mutations in EIF4G1 were implicated as a cause of Parkinson disease and mutations in SLC20A2 as a cause of familial idiopathic basal ganglia calcification. Furthermore, genome-wide association studies (GWAS) and meta-analyses have confirmed known risk genes and identified new risk loci in Parkinson disease, RLS and essential tremor. New models to study genetic forms of Parkinson disease, such as stem cell-derived neurons, have helped to elucidate disease-relevant molecular pathways, such as the molecular link between Gaucher disease and Parkinson disease. SUMMARY New genes have been implicated in Parkinson disease and other movement disorders through the use of NGS. The identification of risk variants has been facilitated by GWAS and meta-analyses. Furthermore, new models are being developed to study the molecular mechanisms involved in the pathogenesis of these diseases.
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Movement disorders in autoimmune diseases.
Baizabal-Carvallo, JF, Jankovic, J
Movement disorders : official journal of the Movement Disorder Society. 2012;(8):935-46
Abstract
Movement disorders have been known to be associated with a variety of autoimmune diseases, including Sydenham's chorea, pediatric autoimmune neuropsychiatric disorders associated with streptococcus, systemic lupus erythematosus, antiphospholipid syndrome, gluten sensitivity, paraneoplastic and autoimmune encephalopathies. Tremors, dystonia, chorea, ballism, myoclonus, parkinsonism, and ataxia may be the initial and even the only presentation of these autoimmune diseases. Although antibodies directed against various cellular components of the central nervous system have been implicated, the pathogenic mechanisms of these autoimmune movement disorders have not yet been fully elucidated. Clinical recognition of these autoimmune movement disorders is critically important as many improve with immunotherapy or dietary modifications, particularly when diagnosed early. We discuss here the clinical features, pathogenic mechanisms, and treatments of movement disorders associated with autoimmune diseases, based on our own experience and on a systematic review of the literature.