RESUMO
BACKGROUND: Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. Missense mutations in the chromosome 19 CACNA1A calcium channel gene have been found in approximately half of the families. The T666M mutation, replacing a threonine by a methionine at residue number 666, is the most frequent mutation, reported in 14 independent FHM families; other mutations have so far been described in only 1 or 2 families each. The clinical features of T666M families have been reported, but the course is unknown. OBJECTIVE: To present a detailed description of the clinical features of new FHM families in which we identified the T666M mutation in our CACNA1A screening program. METHODS: As part of our ongoing genetic screening, mutation analysis of the CACNA1A gene was performed by single-strand conformational polymorphism analysis in 33 probands of families with FHM. RESULTS: We identified the T666M mutation in 5 unrelated FHM families. In 3 of the families, patients displayed cerebellar ataxia. In 1 family, some affected members with the mutation had attacks with confusion but without hemiparesis. In 1 family, patients had progressive cognitive dysfunction. CONCLUSIONS: The T666M mutation is the most frequent CACNA1A mutation in FHM; it was found in 5 of 33 FHM families at our laboratory, and in 19 of 39 families with a known mutation reported in the literature (including the present study). Screening for the T666M mutation should therefore be the first step when screening families with FHM. There is a remarkable clinical heterogeneity among families with the T666M mutation.
Assuntos
Canais de Cálcio/genética , Hemiplegia/genética , Transtornos de Enxaqueca/genética , Mutação Puntual , Adulto , República Tcheca , Saúde da Família , Feminino , Alemanha , Haplótipos , Hemiplegia/etiologia , Humanos , Masculino , Transtornos de Enxaqueca/complicações , Linhagem , Fenótipo , Polimorfismo Conformacional de Fita Simples , Reino Unido , Estados UnidosAssuntos
Neoplasias do Sistema Nervoso Central/complicações , Embolia e Trombose Intracraniana/complicações , Melanoma/complicações , Nevo Pigmentado/complicações , Adulto , Neoplasias do Sistema Nervoso Central/líquido cefalorraquidiano , Neoplasias do Sistema Nervoso Central/etiologia , Córtex Cerebral/patologia , Feminino , Humanos , Embolia e Trombose Intracraniana/líquido cefalorraquidiano , Melanoma/líquido cefalorraquidiano , Melanoma/patologia , Nevo Pigmentado/líquido cefalorraquidiano , Nevo Pigmentado/patologiaRESUMO
Involvement of the CNS by a granulosa cell tumor of the ovary is rare. We describe a patient with leptomeningeal and cerebral cortex infiltration by this tumor. The diagnosis was confirmed by CSF cytology and immunocytochemistry using monoclonal antibodies against human inhibin.
Assuntos
Neoplasias Encefálicas/secundário , Tumor de Células da Granulosa/secundário , Inibinas/análise , Neoplasias Meníngeas/secundário , Neoplasias Ovarianas/patologia , Neoplasias da Medula Espinal/secundário , Anticorpos , Neoplasias Encefálicas/patologia , Córtex Cerebral , Feminino , Tumor de Células da Granulosa/patologia , Humanos , Imuno-Histoquímica/métodos , Imageamento por Ressonância Magnética , Neoplasias Meníngeas/patologia , Pessoa de Meia-Idade , Neoplasias da Medula Espinal/patologiaRESUMO
Transcranial Doppler ultrasound was used to measure mean flow velocities in both middle cerebral arteries while 16 young subjects performed a visual task involving the processing of hierarchically structured stimuli. Specifically, large (global) letters composed of smaller (local) letters were presented, with the subjects' task being to attend either to the local or to the global level and press a button whenever a target on the designated level occurred. Each run was comprised of a 35-sec period of passive stimulation, followed by 65 sec of active task. A highly significant increase of blood flow was detected upon initiation of the active task, which was clearly present after ca. 4 sec. The flow velocity reached a maximum after 20 sec and remained stable for the remainder of the active condition. No hemispheric differences with respect to global or local conditions were observed.
Assuntos
Artérias Cerebrais/fisiologia , Cognição/fisiologia , Adulto , Velocidade do Fluxo Sanguíneo , Feminino , Humanos , Masculino , Percepção Visual/fisiologiaRESUMO
Blood flow velocities in both middle cerebral arteries (MCA) were measured using transcranial Doppler ultrasound (TCD) in healthy subjects engaged in a continuous static visual vigilance task. Stimuli comprised white vertical gratings on a black background with a size of 5 x 5" (non-targets) or 5 x 3.5" (targets). Button presses were required to the rare (8.5%) targets. Over the 30 min session a decrease in hit rate and an increase in reaction time were seen, indicating a decrease in vigilance. These performance changes were paralleled by a decrease in flow velocity in both MCAs. No hemispheric difference was seen. These data suggest a close coupling of performance and blood flow in vigilance tasks. Modulation of cholinergic activity during the vigilance task might be the common underlying mechanism.
Assuntos
Nível de Alerta/fisiologia , Velocidade do Fluxo Sanguíneo/fisiologia , Circulação Cerebrovascular/fisiologia , Tempo de Reação/fisiologia , Adulto , Feminino , Humanos , Masculino , Análise e Desempenho de Tarefas , Ultrassonografia Doppler TranscranianaRESUMO
Blood flow velocities of the posterior cerebral arteries were obtained while healthy subjects were engaged in a visual spatial attention task. Experimental runs consisted of series of stimuli comprised of four elements (two left and two right of a central fixation point) presented briefly in blue against a purple screen. After a period of passive viewing a left or right pointing arrow indicated the visual half-field to be attended by the subjects in order to detect identical symbols on the attended side. Relative to the passive viewing condition a marked increase of flow was seen in both posterior cerebral arteries during the attention period. No differential increase of flow as a function of attended field was detected. These results are discussed in comparison with recent positron-emission tomography (PET) and electrophysiological data obtained with the same task.