Continuous epileptiform discharges during sleep as an evolutionary pattern in patients with congenital Zika virus syndrome.

Congenital Zika virus syndrome (CZVS) is associated with severe neurological deficits. Clinical characteristics of epilepsy and the electroencephalographic (EEG) pattern in CZVS were documented in infancy. In this study, we aimed to describe the EEG findings observed during the follow-up of children with CZVS. Seventy-six EEGs of 55 children (60% female; mean age = 50 months) with confirmed CZVS were analyzed, considering the background, interictal, and ictal epileptiform discharges. Continuous (or almost continuous) epileptiform discharges during non-rapid eye movement sleep were identified in 22 (40%) patients. In 20 (90.1%) patients, the pattern was symmetrical, with an anterior predominance of the epileptiform activity. All patients with this pattern had epilepsy, which was severe in 15 (68.2%) and demanded polytherapy in 19 (86.4%). Subcortical calcifications (77.3%) and multifocal EEGs (72.8%) in earlier ages occurred more often in patients with this pattern. Other unspecific interictal EEG patterns were focal epileptiform discharges in 23 (41.8%) and multifocal activity in six (10.9%). In CZVS, continuous (or almost continuous) epileptiform discharges during sleep emerge as a pattern after the second year of life. This was associated with severe and drug-resistant epilepsy, but not necessarily with an apparent regression. Subcortical calcifications and multifocal epileptiform discharges in infancy are associated with this pattern.

[Psychosis Associated With Fahr's Syndrome: A Case Report]. / Psicosis asociada con síndrome de Fahr: informe de un caso.

INTRODUCTION: Fahr syndrome (SF) is a rare neurological disorder, characterized by abnormal deposition of calcium in brain areas that control movement. OBJECTIVE: The case is presented of a 41-year-old female with a convulsive syndrome, psychotic disorder, neurocognitive disorde,r and intellectual disability associated with bilateral brain calcifications and altered calcium/phosphorus metabolism in the context of hypoparathyroidism. METHOD: Case report. RESULTS: The calcifications found in the patient could be the cause of psychotic symptoms and cognitive impairment. Diagnostic imaging, laboratory tests, psychiatric and neuropsychological assessments are presented. The clinical presentation of this case is compared with similar ones reported in the literature. Therapeutic approaches and clinical outcomes are described. CONCLUSIONS: Fahr's syndrome should be suspected in patients with neuropsychiatric disorders and seizures. Neuroimaging studies, and the determining of phosphorus and calcium metabolism and parathyroid hormone levels are important in this type of patient.

Dysfunctions of the stomatognathic system and vocal aspects in Fahr disease: case report.

The aim of this study is to report the case of a patient with Fahr's Disease in order to describe the main stomatognathic and vocal changes that can be found in individuals with this disease. In order to establish the diagnosis, an assessment of the conditions of orofacial motor system and speech production, as well the efficiency of swallowing, was realized. Based on these assessments, there were difficulties in coordinating and sustaining muscle during speech and presence of oropharyngeal dysphagia. Speech disorders found in Fahr's disease manifest themselves in complex and cover various aspects of phonological knowledge and the diseases that affect the basal ganglia have similar frames of speech-language disorders of the stomatognathic system, being able to present a picture of dysarthria.

Dysfunctions of the stomatognathic system and vocal aspects in Fahr disease: case report / Disfunções do sistema estomatognático e aspectos vocais na doença de Fahr: relato de caso

The aim of this study is to report the case of a patient with Fahr's Disease in order to describe the main stomatognathic and vocal changes that can be found in individuals with this disease. In order to establish the diagnosis, an assessment of the conditions of orofacial motor system and speech production, as well the efficiency of swallowing, was realized. Based on these assessments, there were difficulties in coordinating and sustaining muscle during speech and presence of oropharyngeal dysphagia. Speech disorders found in Fahr's disease manifest themselves in complex and cover various aspects of phonological knowledge and the diseases that affect the basal ganglia have similar frames of speech-language disorders of the stomatognathic system, being able to present a picture of dysarthria.

O objetivo deste estudo consiste em relatar o caso de uma paciente com Doença de Fahr buscando descrever as principais alterações estomatognáticas e vocais que podem ser encontradas em indivíduos com essa doença. A fim de estabelecer o diagnóstico fonoaudiológico, foi realizada avaliação das condições motoras orofaciais e produção da fala, além de eficiência da deglutição. Com base nessas avaliações, observaram-se dificuldades na coordenação e na sustentação muscular durante a fala e presença de disfagia orofaríngea. Os achados fonoaudiológicos na Doença de Fahr manifestam-se de forma complexa, incluindo disfagias e disartria e as doenças que acometem os núcleos da base apresentam quadros semelhantes de alterações fonoaudiológicas do sistema estomatognático, podendo apresentar quadro de disartria.

The unbearable lightness of the extrapyramidal system.

The concept of the extrapyramidal system comprises an amalgam of disparate and often conflicting ideas with a tortuous history. To the theoretical neuroscientist or practicing clinician, it promptly evokes semantic associations that are hardly reminiscent of its original meaning. The purpose of this article is to revisit the sources of the extrapyramidal concept and to examine the transformations that it went through from its inception, in the late 1890s, up to the neuroimaging revolution of the 1980s. Our review shows that the use of "extrapyramidal" as a surrogate for the basal ganglia, disorders of movement, or certain manifestations of spastic hemiplegia does not apply to humans; rather, it represents the historical product of the unwarranted translation of results of animal experimentation into the interpretation of clinical findings on human patients, misguided clinico-anatomic deductions, and fanciful phylogenetic notions. We conclude that the extrapyramidal concept is a valid and robust anatomic concept as long as it strictly refers to the collection of descending fibers originating in a few discrete brainstem tegmental motor nuclei that project to the spinal cord.

Vitamin A supplementation induces a prooxidative state in the striatum and impairs locomotory and exploratory activity of adult rats.

Although vitamin A has been reported to be essential to brain homeostasis, some central nervous system (CNS)-associated deleterious effects may be induced by vitamin A or by its metabolites. In this work, we investigated the effects of acute and chronic vitamin A supplementation at therapeutic (1,000 or 2,500 IU/kg/day) or excessive (4,500 or 9,000 IU/kg/day) doses on the redox state of the rat striatum. We found a 1.8- to 2.7-fold increase of lipid peroxidation in the striatum after acute or chronic supplementation (TBARS method). Therapeutic doses induced a 1.6- to 2.2-fold increase of protein carbonylation (dinitrophenylhydrazine (DNPH) derivatization). Vitamin A supplementation induced a 1.2- to 1.4-fold decrease of protein thiol content acutely and chronically. Superoxide dismutase (SOD) activity, assessed through the inhibition of epinephrine's autoxidation, was increased in a dose-dependent manner chronically. Acutely, both therapeutic and excessive vitamin A doses induced a 1.8- to 2.2-fold decrease of catalase (CAT) activity, as determined through the rate of decrease of hydrogen peroxide (H(2)O(2)). Glutathione peroxidase (GPx) activity did not change in this experimental model. Some vitamin A doses decreased the non-protein thiol content only chronically. Vitamin A supplementation decreased the striatal non-enzymatic antioxidant defenses (TRAP assay). Furthermore, our results show that vitamin A supplementation impaired the SOD/CAT ratio. Moreover, we observed a 1.6- to 2.0-fold decrease of locomotion and exploration in an open field after vitamin A supplementation. Therefore, our results suggest that vitamin A supplementation induces oxidative stress in the rat striatum and that it may be related to a metabolic impairment in such brain area.

Neuropsiquiatria dos núcleos da base: uma revisão / Neuropsychiatry of the basal ganglia: a review

Os núcleos da base são classicamente associados a funções motoras, sendo referidos como sistema extrapiramidal. Nos últimos anos, pesquisas sugerem que eles participam de outras dimensões do comportamento humano, tendo sido descritos cinco circuitos paralelos envolvendo os núcleos da base e do córtex frontal. Cada um deles controla distintos tipos de comportamentos, abrangendo desde movimentos a ações cognitivas e emocionais. Esses circuitos frontoestriatais facilitam comportamentos determinados pelo córtex cerebral, inibindo comportamentos conflitantes. Os substratos neurobiológicos de uma série de transtornos neuropsiquiátricos, incluindo transtornos do espectro obsessivo-compulsivo, esquizofrenia, depressão e dependência de drogas, implicam o envolvimento desses circuitos frontoestriatais. A coréia de Sydenham é apresentada como modelo auto-imune de comprometimento de diferentes circuitos frontoestriatais

Chediak-Higashi syndrome with parkinsonism.

Chediak-Higashi syndrome (CHS), typically presents with partial albinism and severe hematological abnormalities. About 10% of the patients have a mild adult form associated with various neurological manifestations. We describe the case of a 24-year-old woman with parkinsonism that responded well to antiparkinsonian drugs.

Cambios neuropsicológicos y neurofisiológicos en la enfermedad de Fahr / Neuropsychological and neurophysiological features of Fahr's disease

BACKGROUND: Fahr's disease (basal ganglia calcification) is characterized by bi hemispherical calcium deposition in basal ganglia, dentate nucleus and semioval center. Its clinical manifestations are a rigid hypokinetic syndrome, mood disorders and cognitive impairment. AIM: To report to the results of a neurological assessment of three siblings with Fahr disease. PATIENTS AND METHODS: Three sisters, aged 55, 56 and 58 years, were studied. All had a rigid hypokinetic clinical picture associated with cerebellar involvement and a cognitive impairment that progressed in 8, 6 and 10 years respectively. Brain CAT scans showed symmetric and extensive calcifications of cerebellar white matter and dentate nuclei, pons, mesencephalon, lenticular nuclei, thalami and semioval centers. Hypoparathyroidism was ruled out. Cognition was assessed with WAIS and Benton tests and Weschler memory scale. The time of reaction to visual stimuli was studied. The processing speed of visual information and the interhemispheric conduction time of such information, were calculated. Cognitive evoked potentials (P 300) were also studied. RESULTS: Cognitive impairment involved verbal and visual-spatial memory, planning, attention and concentration capacities and visual constructive skills. There was a prolongation of reaction time latencies and loss of the normal asymmetry of interhemispheric transmission (without right to left facilitation). P 300 evoked potentials were absent. CONCLUSIONS: These observations suggest that the pathogenesis of cognitive and motor changes in Fahr's disease is based in a dysfunction of cortico basal connections and their interhemispheric relations. This defines a subcortical dementia secondary to mineral deposits in subcortical structures.

[Neuropsychological and neurophysiological features of Fahr's disease]. / Cambios neuropsicológicos y neurofisiológicos en la enfermedad de Fahr.

BACKGROUND: Fahr's disease (basal ganglia calcification) is characterized by bi hemispherical calcium deposition in basal ganglia, dentate nucleus and semioval center. Its clinical manifestations are a rigid hypokinetic syndrome, mood disorders and cognitive impairment. AIM: To report to the results of a neurological assessment of three siblings with Fahr disease. PATIENTS AND METHODS: Three sisters, aged 55, 56 and 58 years, were studied. All had a rigid hypokinetic clinical picture associated with cerebellar involvement and a cognitive impairment that progressed in 8, 6 and 10 years respectively. Brain CAT scans showed symmetric and extensive calcifications of cerebellar white matter and dentate nuclei, pons, mesencephalon, lenticular nuclei, thalami and semioval centers. Hypoparathyroidism was ruled out. Cognition was assessed with WAIS and Benton tests and Weschler memory scale. The time of reaction to visual stimuli was studied. The processing speed of visual information and the interhemispheric conduction time of such information, were calculated. Cognitive evoked potentials (P 300) were also studied. RESULTS: Cognitive impairment involved verbal and visual-spatial memory, planning, attention and concentration capacities and visual constructive skills. There was a prolongation of reaction time latencies and loss of the normal asymmetry of interhemispheric transmission (without right to left facilitation). P 300 evoked potentials were absent. CONCLUSIONS: These observations suggest that the pathogenesis of cognitive and motor changes in Fahr's disease is based in a dysfunction of cortico basal connections and their interhemispheric relations. This defines a subcortical dementia secondary to mineral deposits in subcortical structures.

Correlatos psicopatológicos del trastorno obsesivo compulsivo y trastornos extrapiramidales / Psychopathological correlates of obsessive-compulsive disorder and extrapyramidal illnessi

El presente estudio tiene como propósito estudiar la relación entre la sintomatología obsesivo compulsiva en la Distonia Muscular Deformante Para ello se seleccionó una muestra de 24 pacientes de la clínica de Discinesias del INNN, a los cuales se les aplicó un Cuestionario demográfico, y una evaluación psicológica mediante el MMPI, la Escala de Obsesiones y Compulsiones de Maudsley (MOCI) y la de YaIe Brown (YB) El análisis estadístico indica sintomatología Obsesiva-compulsiva en un grado de leve a moderado en el test de MOCI y el de Yale-Brown Así mismo, se observó en la escala de Psicastenia del MMPI, los hombres presentaron un perfil de personalidad obsesiva fuera de la norma estadística, mientras que las mujeres tienen puntajes menores A pesar de esto no se encontraron diferencias estadísticamente significativas con respecto al sexo

Discinesia coreiforme asociada a broncodisplasia pulmonar / Bronchopulmonary dysplasia associated chorea like motor disorder. A case report

Introducción. La broncodisplasia pulmonar es una complicación frecuente del recién nacido prematuro que desarrolla enfermedad de membrana hialina; su repercusión sobre el neurodesarrollo incluye: alteraciones motoras, retardo en la adquisición de habilidades lingüísticas y microcefalia; recientemente se ha relacionado con el desarrollo de movimientos involuntarios de tipo coreico y temblor de origen extrapiramidal durante el primer año de vida. Caso clínico. Se reporta un caso típico de discinesia con movimientos coreicos, temblor, postura distónica y dificultades en la succión y deglución asociadas a disquinesia oro-buco-lingual que se desarrolló en los primeros 3 meses de vida en un paciente con broncodisplasia pulmonar y dependencia de suplementos de oxígeno inhalado. Conclusión. Se hace hincapié en el diagnóstico diferencial de los trastornos de la succión y deglución, los hallazgos video-electroencefalográficos y la necesidad de reconocer correctamente el síndrome, así como su tratamiento farmacológico

Neuropsicologia coréia e aids: aspectos clínicos e fisiopatológicos / Chorea and aids: clinical and pathophysiological aspects

As complicações neurológicas em pacientes com AIDS são frequentes, compreendendo infecções oportunistas e neoplasias, que podem coexistir. O aparecimento de movimentos involutários anormais é pouco frequente, no entanto é considerado manifestação muito sugestiva de infecção oportunista, geralmente toxoplasmose. O presente estudo analisa um caso de paciente com AIDS, que apresentou inicialmente hemicoréia e, evolutivamente, observou-se a cessação dos movimentos involuntários, que deram lugar a hemiparesia. Além da avaliação neurológica foi realizado TC de crânio, que revelou lesão em núcleos da base e estruturas adjacentes, nos dois momentos evolutivos. O presente caso confirma a relação entre a manifestação extrapiramidal e a topografia da lesão. Mostra também dados fisiopatológicos referentes ao circuito gânglios da base/extrapiramidal, evidenciados pelos movimentos involuntários e pelo seu desaparecimento com a instalação da hemiparesia.

Major depression and the basal ganglia.

In the last decade, major changes in our understanding of basal ganglia functions have occurred. Traditionally the basal ganglia were considered to be involved only in the modulation of movement. Recent research has suggested that the basal ganglia also take part in complex fronto-subcortical networks that have an important role in cognition reward, and mood regulation. The authors review recent findings that implicate basal ganglia abnormalities in the pathophysiology of mood disorders and discuss their potential implications for future developments in the pharmacotherapy of depressive disorder.

Current controversies and future directions in basal ganglia research. Integrating basic neuroscience and clinical investigation.

This article discusses current controversies and future directions in basal ganglia research, detailing behavioral aspects, anatomic models, neurochemistry, pharmacology, and diagnostic methods as well as surgical techniques. A neuroethologic perspective is highlighted. Furthermore, the relevant literature pertaining to contemporary molecular approaches such as brain microinjections of embryonic or genetically modified cells, for therapeutic purposes and the use of transgenic and knockout animals.

[Hemichorea-hemiballism associated to basal ganglia hemorrhage in uncontrolled diabetes mellitus: report of two cases]. / Hemicoréia-hemibalisomo associado a hemorragia em Gânglios da base em diabete mélito descompensado. Relato de dois casos.

Two cases of acute onset hemichorea-hemiballism in female patients with complicated diabetes mellitus are described. Computerized tomography showed diffuse basal ganglia hemorrhage contralateral to the abnormal movements. Occurrence of such a presentation in a teenager with insulin-dependent diabetes mellitus is unique. The relationship between non-ketotic hyperglycemia, structural damage in the basal ganglia and movement disorders are reviewed.