RESUMO
Seizures in newborns do not always show a clear electro-clinical correlation. The real epileptic nature of some stereotyped rhythmic movements, included in the 'subtle seizures' and considered as brainstem release phenomena, is still debated. We report a brain injured newborn, who displayed several episodes of repetitive limb movements. The ictal EEG discharge, during one of these episodes, was associated with a motor pattern modification, which was endowed with quadrupedal locomotion kinematic features. This might represent an indirect evidence of cervical and lumbar Central Pattern Generators interconnection with in-phase coordination between diagonal limbs since the first hours of life in humans.
Assuntos
Automatismo/diagnóstico , Lesões Encefálicas/complicações , Epilepsia Motora Parcial/diagnóstico , Extremidades , Locomoção/fisiologia , Convulsões/diagnóstico , Geradores de Padrão Central/fisiologia , Eletroencefalografia , Humanos , Recém-Nascido , Masculino , PeriodicidadeRESUMO
BACKGROUND: In 2011 the Latin America Asthma Insight and Management (LA AIM) survey explored the realities of living with asthma. We investigated perception, knowledge, and attitudes related to asthma among Latin American asthma patients. METHODS: Asthma patients aged ≥12 years from four Latin American countries (Argentina, Brazil, Mexico, Venezuela) and the Commonwealth of Puerto Rico responded to questions during face-to-face interviews. A sample size of 2,169 patients (approximately 400 patients/location) provided an accurate representation of asthma patients' opinions. Questions probed respondents' views on topics such as levels of asthma control, frequency and duration of exacerbations, and current and recent use of asthma medications. RESULTS: A total of 2,169 adults or parents of children with asthma participated in the LA AIM survey. At least 20% of respondents experienced symptoms every day or night or most days or nights. Although 60% reported their disease as well or completely controlled, only 8% met guideline criteria for well-controlled asthma. 47% of respondents reported episodes when their asthma symptoms were more frequent or severe than normal, and 44% reported seeking acute care for asthma in the past year. Asthma patients in Latin America overestimated their degree of asthma control. CONCLUSIONS: The LA AIM survey demonstrated the discrepancy between patient perception of asthma control and guideline-mandated criteria. Additional education is required to teach patients that, by more closely following asthma management strategies outlined by current guidelines more patients can achieve adequate asthma control.
RESUMO
OBJECTIVE: Mutations in SCARB2 were recently described as causing action myoclonus renal failure syndrome (AMRF). We hypothesized that mutations in SCARB2 might account for unsolved cases of progressive myoclonus epilepsy (PME) without renal impairment, especially those resembling Unverricht-Lundborg disease (ULD). Additionally, we searched for mutations in the PRICKLE1 gene, newly recognized as a cause of PME mimicking ULD. METHODS: We reviewed cases of PME referred for diagnosis over two decades in which a molecular diagnosis had not been reached. Patients were classified according to age of onset, clinical pattern, and associated neurological signs into "ULD-like" and "not ULD-like." After exclusion of mutations in cystatin B (CSTB), DNA was examined for sequence variation in SCARB2 and PRICKLE1. RESULTS: Of 71 cases evaluated, 41 were "ULD-like" and five had SCARB2 mutations. None of 30 "not ULD-like" cases were positive. The five patients with SCARB2 mutations had onset between 14 and 26 years of age, with no evidence of renal failure during 5.5 to 15 years of follow-up; four were followed until death. One living patient had slight proteinuria. A subset of 25 cases were sequenced for PRICKLE1 and no mutations were found. INTERPRETATION: Mutations in SCARB2 are an important cause of hitherto unsolved cases of PME resembling ULD at onset. SCARB2 should be evaluated even in the absence of renal involvement. Onset is in teenage or young adult life. Molecular diagnosis is important for counseling the patient and family, particularly as the prognosis is worse than classical ULD.
Assuntos
Proteínas de Membrana Lisossomal/genética , Mutação , Epilepsias Mioclônicas Progressivas/diagnóstico , Epilepsias Mioclônicas Progressivas/genética , Receptores Depuradores/genética , Insuficiência Renal/genética , Adolescente , Adulto , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Masculino , Reação em Cadeia da Polimerase , Splicing de RNA , Insuficiência Renal/diagnóstico , Síndrome de Unverricht-Lundborg/diagnóstico , Síndrome de Unverricht-Lundborg/genética , Adulto JovemRESUMO
The aim of this report is not to make a differential diagnosis between epileptic nocturnal seizures and non-epileptic sleep-related movement disorders, or parasomnias. On the contrary, our goal is to emphasize the commonly shared semiological features of some epileptic seizures and parasomnias. Such similar features might be explained by the activation of the same neuronal networks (so-called 'central pattern generators' or CPG). These produce the stereotypical rhythmic motor sequences - in other words, behaviours - that are adaptive and species-specific (such as eating/alimentary, attractive/aversive, locomotor and nesting habits). CPG are located at the subcortical level (mainly in the brain stem and spinal cord) and, in humans, are under the control of the phylogenetically more recent neomammalian neocortical structures, according to a simplified Jacksonian model. Based on video-polygraphic recordings of sleep-related epileptic seizures and non-epileptic events (parasomnias), we have documented how a transient "neomammalian brain" dysfunction - whether epileptic or not - can 'release' (disinhibition?) the CPG responsible for involuntary motor behaviours. Thus, in both epileptic seizures and parasomnias, we can observe: (a) oroalimentary automatisms, bruxism and biting; (b) ambulatory behaviours, ranging from the classical bimanual-bipedal activity of 'frontal' hypermotor seizures, epileptic and non-epileptic wanderings, and somnambulism to periodic leg movements (PLM), alternating leg muscle activation (ALMA) and restless legs syndrome (RLS); and (c) various sleep-related events such as ictal fear, sleep terrors, nightmares and violent behaviour.
Assuntos
Comportamento/fisiologia , Epilepsia do Lobo Frontal/psicologia , Instinto , Parassonias/psicologia , Convulsões/psicologia , Copulação/fisiologia , Emoções/fisiologia , Epilepsia do Lobo Frontal/fisiopatologia , Humanos , Atividade Motora/fisiologia , Boca , Transtornos dos Movimentos/etiologia , Transtornos dos Movimentos/psicologia , Parassonias/fisiopatologia , Convulsões/fisiopatologiaAssuntos
Acidentes por Quedas , Epilepsias Parciais/complicações , Parada Cardíaca/etiologia , Adulto , Anticonvulsivantes/uso terapêutico , Resistência a Medicamentos , Eletrocardiografia , Eletroencefalografia , Epilepsias Parciais/tratamento farmacológico , Epilepsias Parciais/epidemiologia , Feminino , Parada Cardíaca/diagnóstico , Parada Cardíaca/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Marca-Passo Artificial , Síncope/diagnóstico , Síncope/etiologiaAssuntos
Remoção de Dispositivo/métodos , Hemofilia A/imunologia , Hemofilia A/cirurgia , Prótese do Joelho , Infecções Relacionadas à Prótese/cirurgia , Autoanticorpos/sangue , Fator VIII/imunologia , Fator VIIa/uso terapêutico , Hemostáticos/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Recombinantes/uso terapêuticoAssuntos
Epilepsia do Lobo Temporal/genética , Epilepsia do Lobo Temporal/patologia , Predisposição Genética para Doença/genética , Mutação/genética , Proteínas/genética , Lobo Temporal/anormalidades , Adulto , Diferenciação Celular/genética , Transtornos Cromossômicos/genética , Análise Mutacional de DNA , Epilepsia do Lobo Temporal/fisiopatologia , Feminino , Genes Dominantes/genética , Marcadores Genéticos/genética , Testes Genéticos , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/fisiopatologia , Lobo Temporal/fisiopatologiaRESUMO
BACKGROUND: Thalidomide is effective as a first-line therapy for the treatment of multiple myeloma (MM), but its use is limited by peripheral neurotoxicity. OBJECTIVE: To study the occurrence of both myeloma-related neuropathy and thalidomide-induced neuropathy in 31 patients with newly diagnosed MM. METHODS: Clinical and electrophysiologic examinations were performed in 31 patients with newly diagnosed MM before and after 4 months of therapy with thalidomide (200 mg/day, total dose: 21 g) aimed at debulking MM, before autologous transplantation. After transplantation, the patients took thalidomide, 200 mg/day for another 3 months (total dose over three months: 18 g) and then underwent a final clinical and electrophysiologic checkup. RESULTS: At baseline, four patients presented a mild sensorimotor peripheral neuropathy related to MM, which tended to worsen slightly during treatment with thalidomide. At the end of treatment, 83% of the patients had clinical and electrophysiologic evidence of a mild sensory rather than motor, axonal, length-dependent polyneuropathy, whereas 100% of the patients showed improvement to the basic pathology (>or=partial response). CONCLUSIONS: Peripheral neuropathy, sometimes subclinical, and mild in our patients, is a common, early side effect of thalidomide therapy. The high doses (21 g) used in all patients for a relatively short time (4 months) rule out any correlations between neuropathy, total dose, and duration of treatment.
Assuntos
Inibidores da Angiogênese/efeitos adversos , Antineoplásicos/efeitos adversos , Mieloma Múltiplo/tratamento farmacológico , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Talidomida/efeitos adversos , Potenciais de Ação , Adulto , Idoso , Inibidores da Angiogênese/uso terapêutico , Antineoplásicos/uso terapêutico , Feminino , Seguimentos , Transplante de Células-Tronco Hematopoéticas , Humanos , Masculino , Pessoa de Meia-Idade , Mieloma Múltiplo/cirurgia , Debilidade Muscular/induzido quimicamente , Terapia Neoadjuvante , Condução Nervosa , Parestesia/induzido quimicamente , Estudos Prospectivos , Indução de Remissão , Índice de Gravidade de Doença , Talidomida/uso terapêutico , Transplante AutólogoRESUMO
BACKGROUND AND PURPOSE: Diffusion and magnetization transfer (MT) techniques have been applied to the investigation with MR of epilepsy and have revealed changes in patients with or without abnormalities on MR imaging. We hypothesized that also in the coeliac disease (CD), epilepsy and cerebral calcifications (CEC) syndrome diffusion and MT techniques could reveal brain abnormalities undetected by MR imaging and tentatively correlated to epilepsy. MATERIALS AND METHODS: Diffusion and MT weighted images were obtained in 10 patients with CEC, 8 patients with CD without epilepsy and 17 healthy volunteers. The whole brain apparent diffusion coefficient (ADC) and MT ratio (MTR) maps were analyzed with histograms and the Statistical Parametric Mapping 2 (SPM2) software. We employed the non-parametric Mann-Whitney U test to assess differences for ADC and MTR histogram metrics. Voxel by voxel comparison of the ADC and MTR maps was performed with 2 tails t-test corrected for multiple comparison. RESULTS: A significantly higher whole brain ADC value as compared to healthy controls was observed in CEC (P = 0.006) and CD (P = 0.01) patients. SPM2 showed bilateral areas of significantly decreased MTR in the parietal and temporal subcortical white matter (WM) in the CEC patients. CONCLUSION: Our study indicates that diffusion and MT techniques are also capable of revealing abnormalities undetected by MR imaging. In particular patients with CEC syndrome show an increase of the whole brain ADC histogram which is more pronounced than in patients with gluten intolerance. IN CEC patients, voxel-based analysis demonstrates a localized decrease of the MTR in the parieto-temporal subcortical WM.
Assuntos
Encéfalo/patologia , Doença Celíaca/patologia , Imagem de Difusão por Ressonância Magnética , Epilepsia/patologia , Imageamento por Ressonância Magnética , Adulto , Calcinose/patologia , Feminino , Glutens/efeitos adversos , Humanos , Processamento de Imagem Assistida por Computador , MasculinoRESUMO
Negative myoclonus (NM) is an unspecific motor disorder that can characterize a variety of neurological conditions. From the clinical point of view, NM appears as a shock-like involuntary jerky movement caused by a sudden, brief interruption of muscle activity. Asterixis is a type of NM that occurs typically in toxic-metabolic encephalopathies. NM of epileptic nature, or epileptic negative myoclonus (ENM), is defined as an interruption of tonic muscle activity, which is time-locked to an epileptic EEG abnormality, without evidence of an antecedent positive myoclonia in the agonist-antagonist muscles. ENM can be observed in idiopathic, cryptogenic, and symptomatic epileptic disorders. Pathophysiological hypotheses on the origin of NM involve subcortical as well as cortical mechanisms. Recent neuroimaging and neurophysiologic investigations, including intracerebral recordings and electrical stimulation procedures in epileptic patients, suggest the participation of premotor, primary motor, primary sensory, and supplementary motor areas in the genesis of NM. Polygraphic monitoring is essential for the diagnosis of NM, allowing the demonstration of brief interruptions of a tonic EMG activity, not preceded by a positive myoclonus in the agonist and antagonist muscles of the affected limb. Simultaneous EEG-EMG monitoring demonstrating the association of NM with an epileptic potential is consistent with the diagnosis of ENM. Evolution and prognosis of NM is mainly related to aetiology. In childhood idiopathic partial epilepsy, ENM can respond to some drugs (in particular, ethosuximide), whereas other medications (such as carbamazepine or phenytoin) have been reported to induce or worsen it.
Assuntos
Epilepsias Mioclônicas/fisiopatologia , Mioclonia/fisiopatologia , Adulto , Anticonvulsivantes/uso terapêutico , Encéfalo/fisiopatologia , Córtex Cerebral/fisiopatologia , Criança , Diagnóstico Diferencial , Gerenciamento Clínico , Eletroencefalografia , Eletromiografia , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsias Mioclônicas/etiologia , Etossuximida/uso terapêutico , Humanos , Contração Muscular , Mioclonia/classificação , Mioclonia/diagnóstico , Mioclonia/tratamento farmacológico , Mioclonia/etiologiaRESUMO
Central pattern generators (CPGs) are genetically determined neuronal aggregates in the mesencephalon, pons and spinal cord subserving innate motor behaviours essential for survival (feeding, locomotion, reproduction etc.). In higher primates CPGs are largely under neocortical control. We describe how certain motor events observed in parasomnias and epileptic seizures could have similar features and resemble motor behaviours, which can be the expression of the same CPG. Both epilepsy and sleep can lead to a temporary loss of control of neomammalian cortex that facilitates through a common platform (arousal) the emergences of stereotyped inborn fixed action patterns. Therefore we suggest that, independently from the nature of the trigger, be it a seizure or a parasomnia, the same CPGs can be involved, "caught up", leading to a common motor semiology (the "Carillon theory").
Assuntos
Epilepsia/fisiopatologia , Lobo Frontal/fisiopatologia , Sistema Límbico/fisiopatologia , Transtornos dos Movimentos/fisiopatologia , Parassonias/fisiopatologia , Adulto , Relógios Biológicos , Evolução Biológica , Pré-Escolar , Ritmo Circadiano , Epilepsia/complicações , Feminino , Humanos , Hipercinese/etiologia , Hipercinese/fisiopatologia , Masculino , Transtornos dos Movimentos/complicações , Parassonias/complicaçõesRESUMO
Arg47 is a rare transthyretin-related (TTR) amyloidosis variant that is characterised by polyneuropathy and autonomic failure. We describe an Italian family with this mutation whose members (two women and their father) showed a rapid progression of the peripheral nervous system involvement and died within 5 years of clinical onset. Patients with Arg47 or other aggressive TTR amyloidoses should be considered high priority patients for orthotopic liver transplantation.
Assuntos
Amiloidose Familiar/genética , Arginina/genética , Saúde da Família , Mutação , Pré-Albumina/genética , Adolescente , Adulto , Idade de Início , Análise Mutacional de DNA/métodos , Feminino , Humanos , Itália , MasculinoRESUMO
OBJECTIVE: To study EPM2B gene mutations and genotype-phenotype correlations in patients with Lafora disease. METHODS: The authors performed a clinical and mutational analysis of 25 patients, from 23 families, diagnosed with Lafora disease who had not shown mutations in the EPM2A gene. RESULTS: The authors identified 18 mutations in EPM2B, including 12 novel mutations: 4 nonsense mutations (R265X, C26X, W219X, and E67X), a 6-base pair (bp) microdeletion resulting in a two amino acid deletion (V294_K295del), a 4-bp insertion resulting in a frameshift mutation (S339fs12), and 6 missense mutations (D308A, I198N, C68Y, E67Q, P264H, and D233A). In our data set of 77 families with Lafora disease, 54 (70.1%) tested probands have mutations in EPM2A, 21 (27.3%) in EPM2B, and 2 (2.6%) have no mutations in either gene. The course of the disease was longer in patients with EPM2B mutations vs patients with EPM2A mutations. CONCLUSIONS: Genetic allelic heterogeneity is present in Lafora disease associated with mutations in EPM2B. Patients with mutations in EPM2A and EPM2B express similar clinical manifestation, although patients with EPM2B-associated Lafora disease seem to have a slightly milder clinical course. The lack of mutations in EPM2A and EPM2B in two families could be because of the presence of mutations in noncoding, nontested regions or the existence of an additional gene associated with Lafora disease.
Assuntos
Proteínas de Transporte/genética , Predisposição Genética para Doença/genética , Doença de Lafora/genética , Mutação/genética , Adolescente , Adulto , Idade de Início , Criança , Análise Mutacional de DNA , Progressão da Doença , Saúde da Família , Feminino , Frequência do Gene/genética , Testes Genéticos , Variação Genética/genética , Genótipo , Haplótipos/genética , Humanos , Masculino , Fenótipo , Convulsões/genética , Convulsões/fisiopatologia , Ubiquitina-Proteína LigasesRESUMO
The authors report the clinical and polygraphic features of rhythmic teeth grinding observed in a patient as the predominant symptom related to temporal lobe seizures during sleep and wakefulness. This observation demonstrates that exceptionally a teeth-grinding event can be not only a parasomnia (sleep bruxism) but also an epileptic-related motor event. Electromyographic and autonomic features of seizure-related teeth grinding support the interpretation of this motor phenomenon as a particular form of masticatory activity.
Assuntos
Bruxismo/etiologia , Epilepsia do Lobo Temporal/complicações , Adulto , Lobectomia Temporal Anterior , Bruxismo/fisiopatologia , Eletrocardiografia , Eletroencefalografia , Eletromiografia , Epilepsia do Lobo Temporal/fisiopatologia , Epilepsia do Lobo Temporal/cirurgia , Humanos , MasculinoRESUMO
OBJECTIVES: Little is known about the long term outcome of patients with periventricular nodular heterotopia (PNH) and epilepsy, particularly the course of seizures. This study investigated the electroclinical and prognostic features of 16 patients with PNH. METHODS: Of 120 patients with epilepsy and malformations of cortical development, 16 had PNH. Of these, eight patients had periventricular nodules only (simple PNH) and eight also presented with other cortical or cerebral malformations (subcortical heterotopia; polymicrogyria; focal dysplasia; schizencephaly; cortical infolding; agenesis of the corpus callosum; mega cisterna magna and cerebellar atrophy) (PNH plus). All patients underwent clinical, neurophysiological, and MRI investigation. The mean follow up was 17.3 years (2-40 years). RESULTS: Two electroclinical patterns emerged: (1) The first pattern, associated with simple PNH, was characterised by normal intelligence and seizures, usually partial, which began during the second decade of life. The seizures never became frequent and tended to disappear or become very rare. The EEG showed focal abnormalities. (2) The second pattern, associated with PNH plus, was characterised by mental retardation and seizures that began during the first decade of life. The seizures were very frequent in most cases and sudden drops were observed in six patients. Seizures were medically refractory in four patients. The EEG showed focal and bisynchronous abnormalities. CONCLUSIONS: Two groups of PNH patients with different electroclinical and neuroradiological features can be identified after a long term follow up. The presence of other types of cortical or cerebral malformations, in addition to periventricular nodules, determines a poor prognosis.
Assuntos
Córtex Cerebral/anormalidades , Coristoma/diagnóstico , Epilepsia/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Córtex Cerebral/patologia , Córtex Cerebral/fisiopatologia , Coristoma/complicações , Coristoma/fisiopatologia , Eletroencefalografia , Epilepsia/etiologia , Epilepsia/fisiopatologia , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Prognóstico , Estudos RetrospectivosRESUMO
The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F) cases of autosomal dominant partial epilepsy with auditory features (ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed according to the following criteria: partial epilepsy with auditory symptoms, negative family history for epilepsy and absence of cerebral lesions on NMR study. All patients underwent a full clinical, neuroradiological and neurophysiological examination. Forty patients were screened for mutations in LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39 years (average 19 years). Secondarily generalized seizures were the most common type of seizures at onset (79%). Auditory auras occurred either in isolation (53%) or associated with visual, psychic or aphasic symptoms. Low seizure frequency at onset and good drug responsiveness were common, with 51% of patients seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no major differences were found between S and F patients with respect to age at onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin exons failed to disclose mutations. Our data support the existence of a peculiar form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without a positive family history. This syndrome, here named IPEAF, has a benign course in the majority of patients and could be diagnosed by the presence of auditory aura. Although LGI1 mutations have been excluded, genetic factors may play an aetiopathogenetic role in at least some of these S cases.
Assuntos
Percepção Auditiva , Epilepsia Parcial Sensorial/diagnóstico , Transtornos da Percepção/etiologia , Adolescente , Adulto , Idade de Início , Criança , Análise Mutacional de DNA , Epilepsia Parcial Sensorial/genética , Epilepsia Parcial Sensorial/psicologia , Feminino , Predisposição Genética para Doença , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Mutação , Transtornos da Percepção/genética , Prognóstico , Proteínas/genética , Resultado do TratamentoRESUMO
In this work, wavelet decomposition and multiresolution analysis are used to explore the changes in scalp EEG signals during epileptic seizures. EEG tracings, which include non-epileptic periods, the beginning of seizure and the peak of seizure, have been decomposed in five details using order 10 Daubechies orthonormal wavelets. Energy has then been computed, at each detail, from square wavelet coefficients, in order to unmask the presence of brief episodes of energy relocation among different scales. Results reveal the existence of significant changes in energy distribution at seizure onset; this redistribution, however, exhibits significant differences from one patient to another, and also among different channels in the same patient. Some channels exhibit a significant energy increase at low scales (high frequencies greater than 20 Hz) at seizure onset, whereas energy drops at higher scales. Other channels, however, exhibit energy increase at high scales (frequency less than 15 Hz) revealing a predominance of low-frequency activity. These two patterns may be simultaneously present at seizure onset and may change with different spatial evolution during the subsequent seizure progression. Wavelet analysis appears as a powerful tool for extracting features relative to seizure, and to study their propagation among different regions in the scalp.
RESUMO
Two sisters from an Italian family shared progressive motor symptoms, preceding the onset of sensory and autonomic disturbances. The familial occurrence of axonal and slowly progressive polyneuropathy led us to consider these patients as candidates for TTR molecular analysis. We found a missense mutation causing Ile68Leu TTR substitution in both. The aims of this work are to report the possibility of a motor onset of amyloid polyneuropathy and to suggest the search for TTR mutations in familial cases of axonal polyneuropathy. Second, to stress the possible occurrence of amyloid within the spinal canal as the potential pathogenesis and responsible for motor presentation.