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1.
Artículo en Inglés | MEDLINE | ID: mdl-37840995

RESUMEN

Introduction: Movement disorders are the commonest clinical presentation in patients with neurological Wilson's disease (NWD). There are very few studies evaluating the spectrum, severity and their correlation with magnetic resonance imaging (MRI) changes of movement disorders in NWD. Objective: To study the spectrum, topographic distribution, radiological correlate, temporal course and outcome in our cohort of NWD patients. Methods: Retrospective chart review of the NWD patients having movement disorders was performed and analyzed. Results: Sixty-nine patients (males- 47) with NWD were analysed and the mean age at the onset of neurological symptoms was 13.6 ± 6.6 years (median 13 years; range 7-37 years). The first neurological symptom was movement disorder in 55 (79.7%) patients. Tremor (43.6%) and dystonia (41.8%) was the commonest movement disorder as the first neurological symptom. Dystonia (76.8%) was the most common overall movement disorder followed by parkinsonism (52.1%) and tremors (47.8%). Chorea (10.1%), myoclonus (1.4%) and ataxia (1.4%) were the least common movement disorder. Putamen was the most common affected site (95.6%) followed by caudate nucleus (73.9%), thalamus (60.8%), midbrain (59.4%), internal capsule (49.2%), pons (46.3%). Putamen was the most common area of abnormality in dystonia (98%), tremors (85%). Caudate (75%) and putamen (75%) was the most common areas of abnormality in parkinsonism. Favourable outcome was observed in 42 patients (60.8%) following treatment. Conclusion: Dystonia is the most common movement disorder in NWD in isolation or in combination with parkinsonism and tremors. Putamen is the most common radiological site of lesions and more frequently affected in patients with dystonia and tremors. Favourable outcome does occur with appropriate medical and surgical treatment.


Asunto(s)
Distonía , Trastornos Distónicos , Degeneración Hepatolenticular , Trastornos del Movimiento , Trastornos Parkinsonianos , Masculino , Humanos , Niño , Adolescente , Adulto Joven , Adulto , Degeneración Hepatolenticular/complicaciones , Degeneración Hepatolenticular/diagnóstico por imagen , Degeneración Hepatolenticular/tratamiento farmacológico , Temblor/diagnóstico por imagen , Temblor/etiología , Distonía/diagnóstico por imagen , Distonía/etiología , Estudios Retrospectivos , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/etiología
2.
Brain ; 146(12): 5031-5043, 2023 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-37517035

RESUMEN

MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. We further delineate the clinical phenotype of MED27-related disease by characterizing the clinical and radiological features of 57 affected individuals from 30 unrelated families with biallelic MED27 variants. Using exome sequencing and extensive international genetic data sharing, 39 unpublished affected individuals from 18 independent families with biallelic missense variants in MED27 have been identified (29 females, mean age at last follow-up 17 ± 12.4 years, range 0.1-45). Follow-up and hitherto unreported clinical features were obtained from the published 12 families. Brain MRI scans from 34 cases were reviewed. MED27-related disease manifests as a broad phenotypic continuum ranging from developmental and epileptic-dyskinetic encephalopathy to variable neurodevelopmental disorder with movement abnormalities. It is characterized by mild to profound global developmental delay/intellectual disability (100%), bilateral cataracts (89%), infantile hypotonia (74%), microcephaly (62%), gait ataxia (63%), dystonia (61%), variably combined with epilepsy (50%), limb spasticity (51%), facial dysmorphism (38%) and death before reaching adulthood (16%). Brain MRI revealed cerebellar atrophy (100%), white matter volume loss (76.4%), pontine hypoplasia (47.2%) and basal ganglia atrophy with signal alterations (44.4%). Previously unreported 39 affected individuals had seven homozygous pathogenic missense MED27 variants, five of which were recurrent. An emerging genotype-phenotype correlation was observed. This study provides a comprehensive clinical-radiological description of MED27-related disease, establishes genotype-phenotype and clinical-radiological correlations and suggests a differential diagnosis with syndromes of cerebello-lental neurodegeneration and other subtypes of 'neuro-MEDopathies'.


Asunto(s)
Catarata , Epilepsia Generalizada , Epilepsia , Trastornos del Movimiento , Trastornos del Neurodesarrollo , Femenino , Humanos , Lactante , Preescolar , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Epilepsia/genética , Cerebelo/patología , Trastornos del Neurodesarrollo/genética , Epilepsia Generalizada/patología , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/genética , Atrofia/patología , Catarata/genética , Catarata/patología , Fenotipo , Complejo Mediador/genética
3.
Eur J Nucl Med Mol Imaging ; 50(7): 1954-1973, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36702928

RESUMEN

PURPOSE: To give a comprehensive literature overview of alterations in regional cerebral glucose metabolism, measured using [18F]FDG PET, in conditions associated with hyperkinetic movement disorders and ataxia. In addition, correlations between glucose metabolism and clinical variables as well as the effect of treatment on glucose metabolism are discussed. METHODS: A systematic literature search was performed according to PRISMA guidelines. Studies concerning tremors, tics, dystonia, ataxia, chorea, myoclonus, functional movement disorders, or mixed movement disorders due to autoimmune or metabolic aetiologies were eligible for inclusion. A PubMed search was performed up to November 2021. RESULTS: Of 1240 studies retrieved in the original search, 104 articles were included. Most articles concerned patients with chorea (n = 27), followed by ataxia (n = 25), dystonia (n = 20), tremor (n = 8), metabolic disease (n = 7), myoclonus (n = 6), tics (n = 6), and autoimmune disorders (n = 5). No papers on functional movement disorders were included. Altered glucose metabolism was detected in various brain regions in all movement disorders, with dystonia-related hypermetabolism of the lentiform nuclei and both hyper- and hypometabolism of the cerebellum; pronounced cerebellar hypometabolism in ataxia; and striatal hypometabolism in chorea (dominated by Huntington disease). Correlations between clinical characteristics and glucose metabolism were often described. [18F]FDG PET-showed normalization of metabolic alterations after treatment in tremors, ataxia, and chorea. CONCLUSION: In all conditions with hyperkinetic movement disorders, hypo- or hypermetabolism was found in multiple, partly overlapping brain regions, and clinical characteristics often correlated with glucose metabolism. For some movement disorders, [18F]FDG PET metabolic changes reflected the effect of treatment.


Asunto(s)
Corea , Distonía , Trastornos del Movimiento , Mioclonía , Tics , Humanos , Fluorodesoxiglucosa F18 , Corea/diagnóstico por imagen , Temblor , Hipercinesia , Ataxia , Trastornos del Movimiento/diagnóstico por imagen , Glucosa/metabolismo
4.
Eur Neurol ; 85(5): 371-376, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35717942

RESUMEN

BACKGROUND: Diabetic striatopathy (DS), coined as a generic term, has been defined as a hyperglycemic condition associated with either one of the two following conditions: chorea/ballism or striatal hyperdensity on computed tomography or striatal hyperintensity on T1-weighted magnetic resonance imaging. This review highlights those "gray areas," which need further exploration to understand better hyperglycemia-induced striatal changes and diverse movement disorder phenotypes associated with these changes. RESULTS AND DISCUSSION: We searched in PubMed and Google Scholar the terms "diabetes mellitus," "movement disorders," "diabetic striatopathy," "chorea," "hemichorea," "ballism," "hemichorea-hemiballism," and "neuroradiology" in various combinations (time range from 1980 to March 2022). We selected the publications about our topic of discussion. SUMMARY: Hemichorea-hemiballismus is the most commonly associated movement disorder in DS, and the putamen is the most frequently affected anatomical region. The exact pathophysiological mechanisms remain elusive. Clinical-radiological discordance is not rare. Complete reversal of symptoms with the resolution of the imaging findings is the most prevalent outcome in patients with DS. Dramatic improvement of chorea can be achieved by either insulin monotherapy or combination therapy of insulin and D2-blocker or, in some cases, even spontaneously. CONCLUSION: The term "diabetic striatopathy" is ambiguous and controversial. Pathological mechanisms behind clinical-radiological discordance in hyperglycemia-induced striatopathy need further exploration through well-designed studies. We propose a classification of DS that includes symptomatic DS (striatal neuroimaging lesions in association with a clinically evident movement disorder and hyperglycemia), clinically isolated DS (clinically evident movement disorders without striatal changes in neuroimaging), and radiologically isolated DS.


Asunto(s)
Corea , Diabetes Mellitus , Discinesias , Hiperglucemia , Insulinas , Trastornos del Movimiento , Corea/complicaciones , Corea/etiología , Diabetes Mellitus/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/etiología , Neuroimagen
5.
Behav Neurol ; 2022: 3972173, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35251368

RESUMEN

Brain iron load is one of the most important neuropathological hallmarks in movement disorders. Specifically, the iron provides most of the paramagnetic metal signals in the brain and its accumulation seems to play a key role, although not completely explained, in the degeneration of the basal ganglia, as well as other brain structures. Moreover, iron distribution patterns have been implicated in depicting different movement disorders. This work reviewed current literature on Magnetic Resonance Imaging for Brain Iron Detection and Quantification (MRI-BIDQ) in neurodegenerative processes underlying movement disorders.


Asunto(s)
Hierro , Trastornos del Movimiento , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Humanos , Imagen por Resonancia Magnética/métodos , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/patología , Neuroimagen
6.
World Neurosurg ; 156: 103-104, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34601171

RESUMEN

Moyamoya disease is a cerebral angiopathy characterized by bilateral progressive narrowing of internal carotid arteries, developing collateral vessels with the aspect of a "puff of smoke." The presentation with movement disorders is extremely rare. We present the case of an 11-year-old girl with low academic performance who complained of involuntary movements starting in her right hand. Neurologic examination showed preserved muscle strength and right hemichoreoathetosis. Neuroimaging showed left hemisphere hypoperfusion and a hypertrophic distal lenticulostriate artery. The symptoms were controlled with medications, and cerebral revascularization was performed. Although movement disorders are usually related to cerebral lesions or hypoperfusion, cases without these etiologies were described. Thus the finding of asymmetric lenticulostriate arteries improving after asymmetry reduction suggests a possible role in the pathogenesis. Further studies are needed to fully elucidate the mechanisms between moyamoya disease and movement disorders.


Asunto(s)
Discinesias/diagnóstico por imagen , Discinesias/cirugía , Enfermedad de Moyamoya/diagnóstico por imagen , Enfermedad de Moyamoya/cirugía , Niño , Discinesias/etiología , Femenino , Humanos , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/etiología , Trastornos del Movimiento/cirugía , Enfermedad de Moyamoya/complicaciones
7.
Clin Neurophysiol ; 132(10): 2608-2638, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34488012

RESUMEN

Clinical neurophysiology studies can contribute important information about the physiology of human movement and the pathophysiology and diagnosis of different movement disorders. Some techniques can be accomplished in a routine clinical neurophysiology laboratory and others require some special equipment. This review, initiating a series of articles on this topic, focuses on the methods and techniques. The methods reviewed include EMG, EEG, MEG, evoked potentials, coherence, accelerometry, posturography (balance), gait, and sleep studies. Functional MRI (fMRI) is also reviewed as a physiological method that can be used independently or together with other methods. A few applications to patients with movement disorders are discussed as examples, but the detailed applications will be the subject of other articles.


Asunto(s)
Encéfalo/diagnóstico por imagen , Encéfalo/fisiología , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/fisiopatología , Movimiento/fisiología , Neuroimagen/normas , Mapeo Encefálico/métodos , Mapeo Encefálico/normas , Electroencefalografía/métodos , Electroencefalografía/normas , Electromiografía/métodos , Electromiografía/normas , Análisis de la Marcha/métodos , Análisis de la Marcha/normas , Humanos , Imagen por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/normas , Magnetoencefalografía/métodos , Magnetoencefalografía/normas , Neuroimagen/métodos
8.
Mol Neurobiol ; 58(11): 6020-6031, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34435331

RESUMEN

This study aims to identify neuropsychiatric manifestations in neurological Wilson disease (NWD), and their correlation with MRI changes and glutamate excitotoxicity. Forty-three consecutive patients with NWD from a tertiary care teaching hospital were evaluated prospectively who fulfilled the inclusion criteria. The neuropsychiatric evaluation was done using Neuropsychiatric Inventory (NPI) battery that assesses 12 domains including delusion, hallucination, agitation/aggression, dysphoria/depression, anxiety, euphoria, apathy, disinhibition, irritability, aberrant motor activity, appetite change, and abnormal nighttime behavior. Cranial MRI was done using a 3 T machine, and locations of signal changes were noted including the total number of MRI lesions. Serum glutamate level was measured by a fluorescence microplate reader. Abnormal NPI in various domains and total NPI scores were correlated with MRI lesions, serum and urinary copper, and glutamate level. The median age of the patients was 16 years. Forty-one (48.8%) patients had cognitive impairment and 37 (86%) had movement disorder. Neurobehavioral abnormality was detected in all-commonest being agitation (90.7%) followed by appetite change (81.4%), elation (74.4%), irritability (69.8%), anxiety (67.4%), depression (65.1%), apathy (44.2%), night time abnormal behavior (32.6%), aberrant motor behavior (20.9%), delusions (16.3%), and hallucination (18.6%). The thalamic lesion was associated with depression, globus pallidus with depression and anxiety, caudate with anxiety and agitation, brainstem with irritability, and frontal cortex with apathy. Serum glutamate level was higher in NWD. NPI sum score correlated with MRI load and glutamate level. Varying severity of neurobehavioral abnormalities are common in the patients with NWD and correlate with the location of MRI lesion and glutamate level.


Asunto(s)
Síntomas Conductuales/etiología , Trastornos del Conocimiento/etiología , Ácido Glutámico/sangre , Degeneración Hepatolenticular/complicaciones , Imagen por Resonancia Magnética , Trastornos del Movimiento/etiología , Neuroimagen , Adolescente , Adulto , Síntomas Conductuales/sangre , Síntomas Conductuales/diagnóstico por imagen , Mapeo Encefálico , Trastornos del Conocimiento/sangre , Trastornos del Conocimiento/diagnóstico por imagen , Cobre/sangre , Cobre/orina , Trastornos de Alimentación y de la Ingestión de Alimentos/sangre , Trastornos de Alimentación y de la Ingestión de Alimentos/etiología , Femenino , Alucinaciones/diagnóstico por imagen , Alucinaciones/tratamiento farmacológico , Alucinaciones/etiología , Degeneración Hepatolenticular/diagnóstico por imagen , Degeneración Hepatolenticular/metabolismo , Humanos , Hígado/diagnóstico por imagen , Masculino , Trastornos del Humor/sangre , Trastornos del Humor/diagnóstico por imagen , Trastornos del Humor/etiología , Trastornos del Movimiento/sangre , Trastornos del Movimiento/diagnóstico por imagen , Neurotransmisores/metabolismo , Fumarato de Quetiapina/uso terapéutico , Índice de Severidad de la Enfermedad , Adulto Joven
9.
J Neuroimmunol ; 358: 577655, 2021 09 15.
Artículo en Inglés | MEDLINE | ID: mdl-34265625

RESUMEN

Movement disorders are extremely rare in acute disseminated encephalomyelitis (ADEM) and in the novel severe acute respiratory syndrome coronavirus (SARS-CoV-2) infection. We herein report a 34-years-old previously healthy woman who presented with a febrile illness and a constellation of movement disorders (predominantly myoclonus) followed by encephalopathy. After exclusion of common infectious, autoimmune and paraneoplastic etiologies, she was diagnosed to have COVID-19 induced ADEM, which responded to intravenous methylprednisolone and intravenous immunoglobulin. Our case adds to the tally of cases of post-SARS-CoV-2 infection related movement disorders and to the exceedingly rare list of cases in which movement disorders preceded ADEM.


Asunto(s)
COVID-19/complicaciones , COVID-19/diagnóstico por imagen , Encefalomielitis Aguda Diseminada/diagnóstico por imagen , Encefalomielitis Aguda Diseminada/etiología , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/etiología , Adulto , Femenino , Humanos
11.
Hum Brain Mapp ; 42(9): 2862-2879, 2021 06 15.
Artículo en Inglés | MEDLINE | ID: mdl-33738898

RESUMEN

Deep brain stimulation (DBS) surgery has been shown to dramatically improve the quality of life for patients with various motor dysfunctions, such as those afflicted with Parkinson's disease (PD), dystonia, and essential tremor (ET), by relieving motor symptoms associated with such pathologies. The success of DBS procedures is directly related to the proper placement of the electrodes, which requires the ability to accurately detect and identify relevant target structures within the subcortical basal ganglia region. In particular, accurate and reliable segmentation of the globus pallidus (GP) interna is of great interest for DBS surgery for PD and dystonia. In this study, we present a deep-learning based neural network, which we term GP-net, for the automatic segmentation of both the external and internal segments of the globus pallidus. High resolution 7 Tesla images from 101 subjects were used in this study; GP-net is trained on a cohort of 58 subjects, containing patients with movement disorders as well as healthy control subjects. GP-net performs 3D inference in a patient-specific manner, alleviating the need for atlas-based segmentation. GP-net was extensively validated, both quantitatively and qualitatively over 43 test subjects including patients with movement disorders and healthy control and is shown to consistently produce improved segmentation results compared with state-of-the-art atlas-based segmentations. We also demonstrate a postoperative lead location assessment with respect to a segmented globus pallidus obtained by GP-net.


Asunto(s)
Aprendizaje Profundo , Globo Pálido/anatomía & histología , Globo Pálido/diagnóstico por imagen , Interpretación de Imagen Asistida por Computador , Imagen por Resonancia Magnética , Trastornos del Movimiento/diagnóstico por imagen , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Interpretación de Imagen Asistida por Computador/métodos , Interpretación de Imagen Asistida por Computador/normas , Imagen por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/normas , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/patología , Reproducibilidad de los Resultados , Adulto Joven
12.
Brain Connect ; 11(7): 584-593, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-33724053

RESUMEN

Objective: To explore changes in resting-state networks in patients with jerky and tremulous functional movement disorders (JT-FMD). Methods: Resting-state functional magnetic resonance imaging data from seventeen patients with JT-FMD and seventeen age-, sex-, and education-matched healthy controls (HC) were investigated. Independent component analysis was used to examine the central executive network (CEN), salience network, and default mode network (DMN). Frequency distribution of network signal fluctuations and intra- and internetwork functional connectivity were investigated. Symptom severity was measured using the Clinical Global Impression-Severity scale. Beck Depression Inventory and Beck Anxiety Inventory scores were collected to measure depression and anxiety in FMD, respectively. Results: Compared with HC, patients with JT-FMD had significantly decreased power of lower range (0.01-0.10 Hz) frequency fluctuations in a precuneus and posterior cingulate cortex component of the DMN and in the dorsal attention network (DAN) component of the CEN (false discovery rate-corrected p < 0.05). No significant group differences were found for intra- and internetwork functional connectivity. In patients with JT-FMD, symptom severity was not significantly correlated with network measures. Depression scores were weakly correlated with intranetwork functional connectivity in the medial prefrontal cortex, while anxiety was not found to be related to network connectivity. Conclusions: Given the changes in the posterodorsal components of the DMN and DAN, we postulate that the JT-FMD-related functional alterations found in these regions could provide support for the concept that particularly attentional dysregulation is a fundamental disturbance in these patients. Impact statement In this study, we explored static brain network functional connectivity in patients with jerky and tremulous functional movement disorders (JT-FMD) and healthy controls. We studied network functioning by analyzing functional connectivity measures, and also time course frequency spectra, which is novel compared with previous studies. We discovered aberrations in the frequency distribution of a posterior component of the default mode network (precuneus/posterior cingulate) and the dorsal attention network in patients with JT-FMD relative to controls. Conclusively, our findings could provide support for impaired attentional control as a fundamental disturbance in JT-FMD and contribute to the growing conceptualization of this disorder.


Asunto(s)
Mapeo Encefálico , Trastornos del Movimiento , Encéfalo/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Trastornos del Movimiento/diagnóstico por imagen
13.
Hum Brain Mapp ; 42(5): 1434-1445, 2021 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-33615622

RESUMEN

In motor functional neurological disorders (mFND), relationships between interoception (a construct of high theoretical relevance to its pathophysiology) and neuroanatomy have not been previously investigated. This study characterized white matter in mFND patients compared to healthy controls (HCs), and investigated associations between fiber bundle integrity and cardiac interoception. Voxel-based analysis and tractography quantified fractional anisotropy (FA) in 38 mFND patients compared to 38 HCs. Secondary analyses compared functional seizures (FND-seiz; n = 21) or functional movement disorders (n = 17) to HCs. Network lesion mapping identified gray matter origins of implicated fiber bundles. Within-group mFND analyses investigated relationships between FA, heartbeat tracking accuracy and interoceptive trait prediction error (discrepancies between interoceptive accuracy and self-reported bodily awareness). Results were corrected for multiple comparisons, and all findings were adjusted for depression and trait anxiety. mFND and HCs did not show any between-group interoceptive accuracy or FA differences. However, the FND-seiz subgroup compared to HCs showed decreased integrity in right-lateralized tracts: extreme capsule/inferior fronto-occipital fasciculus, arcuate fasciculus, inferior longitudinal fasciculus, and thalamic/striatum to occipital cortex projections. These alterations originated predominantly from the right temporoparietal junction and inferior temporal gyrus. In mFND patients, individual differences in interoceptive accuracy and interoceptive trait prediction error correlated with fiber bundle integrity originating from the insula, temporoparietal junction, putamen and thalamus among other regions. In this first study investigating brain-interoception relationships in mFND, individual differences in interoceptive accuracy and trait prediction error mapped onto multimodal integration-related fiber bundles. Right-lateralized limbic and associative tract disruptions distinguished FND-seiz from HCs.


Asunto(s)
Anticipación Psicológica/fisiología , Imagen de Difusión Tensora , Sustancia Gris , Interocepción/fisiología , Trastornos del Movimiento , Sustancia Blanca , Adulto , Variación Biológica Poblacional/fisiología , Corteza Cerebral , Femenino , Sustancia Gris/diagnóstico por imagen , Sustancia Gris/patología , Sustancia Gris/fisiopatología , Frecuencia Cardíaca/fisiología , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/patología , Trastornos del Movimiento/fisiopatología , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología , Sustancia Blanca/fisiopatología , Adulto Joven
14.
Artículo en Inglés | MEDLINE | ID: mdl-33598364

RESUMEN

Background: Aluminium encephalopathy results from exposure to aluminium from occupational, recreational, and environmental sources. Movement disorders, cerebellar ataxia, pyramidal tract signs, dementia, microcytic anemia and bone disease are typical manifestations. Case Report: A 55-year-old woman had clinical manifestations, persistent hyperaluminemia without magnetic resonance imaging (MRI) scan changes of toxic encephalopathy following a prolonged exposure to marine grade paints containing 30% aluminium. Chelation therapy with ethylenediaminetetraacetic acid (EDTA) demonstrated decreased levels of aluminemia and significant neurological improvement over time. Discussion: This diagnosis should be entertained in patients with movement disorders, cerebellar ataxia, pyramidal signs, and dementia of unknown etiology. Highlights: Aluminium encephalopathy (AE) is a neurological syndrome caused by aluminium neurotoxicity. Manifestations include cognitive impairment, motor dysfunction, microcytic anemia and bone disease. This case illustrates AE with hyperaluminemia associated with chronic exposure to industrial paints and clinical and biochemical reversibility after chelation therapy with ethylenediaminetetraacetic acid. Movement disorders are highlighted.


Asunto(s)
Encefalopatías , Demencia , Trastornos del Movimiento , Aluminio/toxicidad , Demencia/inducido químicamente , Demencia/diagnóstico por imagen , Demencia/tratamiento farmacológico , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/etiología
15.
Turk J Med Sci ; 51(2): 400-410, 2021 04 30.
Artículo en Inglés | MEDLINE | ID: mdl-33237660

RESUMEN

The dopamine transporter (DAT) imaging provides an objective tool for the assessment of dopaminergic function of presynaptic terminals which is valuable for the differential diagnosis of parkinsonian disorders related to a striatal dopaminergic deficiency from movement disorders not related a striatal dopaminergic deficiency. DAT imaging with single-photon emission computed tomography (SPECT) can be used to confirm or exclude a diagnosis of dopamine deficient parkinsonism in cases where the diagnosis is unclear. It can also detect the dopaminergic dysfunction in presymptomatic subjects at risk for Parkinson's disease (PD) since the reduced radiotracer binding to DATs in striatum is already present in the prodromal stage of PD. This review covers the rationale of using DAT SPECT imaging in the diagnosis of PD and other parkinsonian disorders, specifically focusing on the practical aspects of imaging and routine clinical indications.


Asunto(s)
Cuerpo Estriado/metabolismo , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/metabolismo , Dopamina/deficiencia , Trastornos del Movimiento/diagnóstico , Enfermedad de Parkinson/diagnóstico , Tomografía Computarizada de Emisión de Fotón Único/métodos , Diagnóstico Diferencial , Dopamina/metabolismo , Femenino , Humanos , Masculino , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/metabolismo , Enfermedad de Parkinson/diagnóstico por imagen , Enfermedad de Parkinson/metabolismo , Trastornos Parkinsonianos/diagnóstico , Trastornos Parkinsonianos/diagnóstico por imagen , Trastornos Parkinsonianos/metabolismo , Síntomas Prodrómicos , Unión Proteica , Radioisótopos
16.
J Mol Neurosci ; 71(2): 338-346, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32662046

RESUMEN

To report the phenomenology of movement disorder (MD) in neurological Wilson disease (NWD), and correlate these with MRI, and biomarkers of oxidative stress, excitotoxicity, and inflammation. Eighty-two patients were included, and their phenomenology of MD was categorized. The severity of dystonia was assessed using the Burke-Fahn-Marsden score, and chorea, athetosis, myoclonus, and tremor on a 0-4 scale. The MRI changes were noted. Serum glutamate, cytokines, and oxidative stress markers were measured. Movement disorders were noted in 78/82 (95.1%) patients and included dystonia in 69 (84.1%), chorea in 31 (37.8%), tremor in 24 (29.3%), parkinsonism in 19 (23.2%), athetosis in 13 (15.9%), and myoclonus in 9 (11.0%) patients. Dystonia was more frequently observed in the patients with thalamic (76.8 vs 23.2%), globus pallidus (72.0 vs 28.0%), putamen (69.5 vs 30.5%), caudate (68.3 vs 31.7%) and brainstem (61.0 vs 39.0%) involvement, and tremor with cerebellar involvement (37.5 vs 5.2%). The median age of onset of neurological symptoms was 12 (5-50) years. WD patients had higher levels of malondialdehyde (MDA), glutamate, and cytokines (IL-6, IL-8, IL-10, and TNFα) and lower levels of glutathione and total antioxidant capacity (TAC) compared with the controls. Serum glutamate, IL-6, IL-8, and plasma MDA levels were increased with increasing neurological severity, while glutathione and TAC levels decreased. The severity of dystonia related to the number of MRI lesions. MD is the commonest neurological symptoms in WD. Oxidative stress, glutamate, and cytokine levels are increased in WD and correlate with neurological severity.


Asunto(s)
Degeneración Hepatolenticular/fisiopatología , Imagen por Resonancia Magnética , Trastornos del Movimiento/etiología , Neuroimagen , Adolescente , Adulto , Edad de Inicio , Biomarcadores/sangre , Niño , Citocinas/sangre , Progresión de la Enfermedad , Discinesias/sangre , Discinesias/diagnóstico por imagen , Discinesias/etiología , Femenino , Ácido Glutámico/sangre , Glutatión/sangre , Humanos , Masculino , Malondialdehído/sangre , Trastornos del Movimiento/sangre , Trastornos del Movimiento/diagnóstico por imagen , Estrés Oxidativo , Índice de Severidad de la Enfermedad , Sustancias Reactivas al Ácido Tiobarbitúrico/análisis , Adulto Joven
17.
Stereotact Funct Neurosurg ; 99(1): 48-54, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33075799

RESUMEN

Deep brain stimulation (DBS) is a complex surgical procedure that requires detailed anatomical knowledge. In many fields of neurosurgery navigation systems are used to display anatomical structures during an operation to aid performing these surgeries. In frame-based DBS, the advantage of visualization has not yet been evaluated during the procedure itself. In this study, we added live visualization to a frame-based DBS system, using a standard navigation system and investigated its accuracy and potential use in DBS surgery. As a first step, a phantom study was conducted to investigate the accuracy of the navigation system in conjunction with a frame-based approach. As a second step, 5 DBS surgeries were performed with this combined approach. Afterwards, 3 neurosurgeons and 2 neurologists with different levels of experience evaluated the potential use of the system with a questionnaire. Moreover, the additional personnel, costs and required set up time were noted and compared to 5 consecutive standard procedures. In the phantom study, the navigation system showed an inaccuracy of 2.1 mm (mean SD 0.69 mm). In the questionnaire, a mean of 9.4/10 points was awarded for the use of the combined approach as a teaching tool, a mean of 8.4/10 for its advantage in creating a 3-dimensional (3-D) map and a mean of 8/10 points for facilitating group discussions. Especially neurosurgeons and neurologists in training found it useful to better interpret clinical results and side effects (mean 9/10 points) and neurosurgeons appreciated its use to better interpret microelectrode recordings (mean 9/10 points). A mean of 6/10 points was awarded when asked if the benefits were worth the additional efforts. Initially 2 persons, then one additional person was required to set up the system with no relevant added time or costs. Using a navigation system for live visualization during frame-based DBS surgery can improve the understanding of the complex 3-D anatomy and many aspects of the procedure itself. For now, we would regard it as an excellent teaching tool rather than a necessity to perform DBS surgeries.


Asunto(s)
Estimulación Encefálica Profunda/normas , Neuronavegación/normas , Neurocirujanos/normas , Técnicas Estereotáxicas/normas , Estimulación Encefálica Profunda/métodos , Electrodos Implantados/normas , Femenino , Humanos , Imagenología Tridimensional/métodos , Imagenología Tridimensional/normas , Masculino , Microelectrodos/normas , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/cirugía , Neuronavegación/métodos , Procedimientos Neuroquirúrgicos/métodos , Procedimientos Neuroquirúrgicos/normas , Fantasmas de Imagen/normas
18.
J Back Musculoskelet Rehabil ; 34(1): 33-37, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-32986653

RESUMEN

BACKGROUND AND OBJECTIVE: Jumping stump is an uncommon movement disorder characterized by involuntary movements and severe neuropathic pain in the stump. The pathophysiology and etiology of this phenomenon have not yet been clearly elucidated, and unfortunately, no proven treatment with successful recovery exists. This report aims to describe a severe painful jumping stump, possibly due to neuromas, in a traumatic transradial amputee. MATERIALS AND METHOD: We performed ultrasound examination of the painful stump depicted neuroma. Electromyographic evaluation of the stump revealed arrhythmic motor unit action potentials (MUAPs) with normal duration and amplitude; other movement disorders, such as myokymia and fasciculations, were excluded. Ultrasound should be preferred to magnetic resonance imaging (MRI) for evaluation of stumps in patients with painful stump because MRI may not be helpful due to motion artefacts. The involuntary movements ceased after surgical excision of the neuroma following failure of conservative treatments. CONCLUSION: This report confirms that neuromas are clearly associated with jumping stump. Ultrasonographic and electromyographic assessments are necessary to reveal the features of this pathology for treatment planning.


Asunto(s)
Muñones de Amputación/diagnóstico por imagen , Trastornos del Movimiento/diagnóstico por imagen , Neuralgia/diagnóstico por imagen , Neuroma/diagnóstico por imagen , Neoplasias de los Tejidos Blandos/diagnóstico por imagen , Extremidad Superior/diagnóstico por imagen , Amputación Quirúrgica , Muñones de Amputación/fisiopatología , Amputados , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/fisiopatología , Neuralgia/fisiopatología , Neuroma/fisiopatología , Dimensión del Dolor , Neoplasias de los Tejidos Blandos/fisiopatología , Ultrasonografía , Extremidad Superior/fisiopatología
20.
Stroke ; 52(1): 241-249, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33317414

RESUMEN

BACKGROUND AND PURPOSE: Despite continuing efforts in the multimodal assessment of the motor system after stroke, conclusive findings on the complementarity of functional and structural metrics of the ipsilesional corticospinal tract integrity and the role of the contralesional hemisphere are still lacking. This research aimed to find the best combination of motor system metrics, allowing the classification of patients into 3 predefined groups of upper limb motor recovery. METHODS: We enrolled 35 chronic ischemic stroke patients (mean 47 [26-66] years old, 29 [6-58] months poststroke) with a single supratentorial lesion and unilateral upper extremity weakness. Patients were divided into 3 groups, depending on upper limb motor recovery: good, moderate, and bad. Nonparametric statistical tests and regression analysis were used to investigate the relationships among microstructural (fractional anisotropy (FA) ratio of the corticospinal tracts at the internal capsule (IC) level (classic method) and along the length of the tracts (Fréchet distance), and of the corpus callosum) and functional (motor evoked potentials [MEPs] for 2 hand muscles) motor system metrics. Stratification rules were also tested using a decision tree classifier. RESULTS: IC FA ratio in the IC and MEP absence were both equally discriminative of the bad motor outcome (96% accuracy). For the 3 recovery groups' classification, the best parameter combination was IC FA ratio and the Fréchet distance between the contralesional and ipsilesional corticospinal tract FA profiles (91% accuracy). No other metrics had any additional value for patients' classification. MEP presence differed for 2 investigated muscles. CONCLUSIONS: This study demonstrates that better separation between 3 motor recovery groups may be achieved when considering the similarity between corticospinal tract FA profiles along its length in addition to region of interest-based assessment and lesion load calculation. Additionally, IC FA ratio and MEP absence are equally important markers for poor recovery, while for MEP probing it may be important to investigate more than one hand muscle.


Asunto(s)
Accidente Cerebrovascular Isquémico/fisiopatología , Trastornos del Movimiento/fisiopatología , Adulto , Anciano , Anisotropía , Enfermedad Crónica , Imagen de Difusión Tensora , Potenciales Evocados Motores , Femenino , Lateralidad Funcional , Humanos , Accidente Cerebrovascular Isquémico/complicaciones , Accidente Cerebrovascular Isquémico/diagnóstico por imagen , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/diagnóstico por imagen , Trastornos del Movimiento/etiología , Debilidad Muscular/etiología , Debilidad Muscular/fisiopatología , Desempeño Psicomotor , Tractos Piramidales/diagnóstico por imagen , Tractos Piramidales/fisiopatología , Recuperación de la Función , Extremidad Superior/fisiopatología
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