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1.
PURPOSE: Autosomal dominant lateral temporal lobe epilepsy (ADLTLE) is a rare familial epilepsy with onset in adolescence or early adulthood, associated with mutations of LGI1 in most families. We describe the clinical, neuropsychological, and molecular genetic study of a new ADLTLE Italian family. METHODS: A four-generation family from Sardinia was studied. Clinical, neuropsychological, and genetic analysis were performed in eight living affected family members. RESULTS: Nine family members had seizures over four generations; four of them had auditory auras and aphasia followed by secondarily generalized tonic-clonic seizures (SGTCs). One individual in addition had visual symptoms, and one family member had only vertigo followed by SGTCs. The side of seizure onset could not be determined in these five patients with focal seizures. The proband had febrile and afebrile tonic-clonic seizures. Two family members had only febrile seizures. Inheritance was autosomal dominant with 59% penetrance. Genetic molecular analysis showed a new LGI1 missense mutation causing a Leu154Pro substitution in six affected and one unaffected individuals. Dichotic listening performance was abnormal in four affected individuals compared with controls. Fluency and lexical abilities also were pathological in three patients. These findings showed that in patients, the left temporal lobe was less specialized in the auditory processing function than in controls. CONCLUSIONS: In this ADLTLE family, both seizure semiology and neuropsychological findings point to a lateral temporal lobe dysfunction. The newly identified LGI1 mutation might underlie both the seizure disorder and the neuropsychological deficits.  相似文献
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Is the CACNA1A gene involved in familial migraine with aura?   总被引:5,自引:0,他引:5  
The discovery of mutations in the neural calcium channel (CACNA1A) gene in familial hemiplegic migraine (FHM), variant of migraine with aura, led to the suggestion that this gene might be involved in familial migraine with aura (FMA). We investigated whether the mutations in FHM are present in FMA patients, analyzing genomic DNA by PCR, single stranded conformation polymorphism, sequencing and restriction enzyme. No mutations were found. A known polymorphism (5682–14C>T) was found in exon 36. These findings suggest that the mutations found in FHM and the other known mutations of the CACNA1A gene are not the genetic basis of FMA. Genetic alterations in FMA patients may be localized on chromosome 19 but not in the CACNA1A exons we investigated. Received: 25 January 2002 / Accepted in revised form: 25 February 2002  相似文献
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无先兆偏头痛患者血单胺类递质变化的研究   总被引:4,自引:0,他引:4  
目的 了解5-羟色胺(5-TH)、5-羟吲哚乙酸(5-HIAA)、多巴胺(DA)、去甲肾上腺素(NE)在无先兆偏头痛发病中的作用。方法 用荧光分光光度法检测35例无先兆偏头痛患者(发作期16例、间歇期19例)和23例正常人血浆及血小板5-HT、5-HIAA、DA、NE含量。结果 无先兆偏头痛患者发作期组血浆5-HT含量低于对照组(P<0.05),而5-HIAA含量高于对照组(P<0.01);间歇期组5-HT含量高于发作期组,而5-HIAA含量低于发作期组(P<0.01);发作期组血浆DA、NE含量均低于对照组(P<0.01)间歇期组血浆DA与发作期组相比亦有显著性差异(P<0.01)。无先兆偏头痛患者发作期组血小板5-HT含量高于对照组和间歇期组,而5-HIAA含量低于对照组和间歇期组(P<0.01);而发作期组血小板NE含量高于对照组和间歇期组(P<0.01);DA含量则低于对照组和间歇期组(P<0.01)。结论 单胺类递质对偏头痛的发生可能有重要意义。  相似文献
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PURPOSE: Pharyngeal dysesthetic auras are typically described with centrotemporal and opercular seizure-onset localizations. In this report we describe the fourth case in literature with temporal lobe seizures, apparently secondary to an amygdalar lesion on magnetic resonance imaging (MRI), presenting with prominent pharyngeal dysesthesias as the initial, or only, seizure manifestation. METHODS: Because of diagnostic uncertainty regarding the nature of the pharyngeal sensations, our case underwent prolonged extracranial video-EEG monitoring. RESULTS: Video-EEG information documented the epileptic origin of the dysesthesias and was concordant with the side and location of the amygdalar lesion. CONCLUSIONS: Pharyngeal dysesthetic auras may be produced by epileptic activity originating from the amygdala, and perhaps other mediotemporal structures. The underlying topography of this aura is not known with certainty, and it may reflect seizure spread from the amygdala and adjacent areas to the closely interconnected insular and opercular cortex, whose secondary activation could elicit similar sensations.  相似文献
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Genetic transmission of migraine without aura: A study of 68 families   总被引:2,自引:0,他引:2  
68 randomly selected patients with migraine without aura (M) and 4 generations of their relatives (N=394) were studied in order to probe the genetic hypothesis of migraine. Significantly more of the probands were women and M was significantly more frequent among female relatives. Earlier onset was commoner among male probands. A genetic component of M is indicated by the very high frequency of at least one affected relative (85.3%) and by a disease prevalence that is similar among both first and second degree relatives. A simple autosomal mode of transmission seems unlikely from analysis of the data on the affected relatives, while a “sex-limited” transmission mode is suggested.
Sommario Allo scopo di comprovare la teoria genetica dell'emicrania, abbiamo studiato 68 pazienti consecutivi affetti da emicrania senz'aura insieme ai loro parenti attraverso quattro generazioni (N=394). Significativamente la maggior parte dei probandi erano donne e l'emicrania era più frequente tra i parenti di sesso femminile. Un'età di esordio più bassa era più comune tra i probandi di sesso maschile. L'esistenza di una componente genetica dell'emicrania senz'aura è indicata dall' alta incidenza di storia familiare positiva (almeno un parente affetto) uguale all'85.3% e da una costante prevalenza di malattia nei parenti di primo e secondo grado. Dall'analisi dei dati riguardanti le percentuali di probandi con genitori affetti da emicrania, sembra improbabile l'esistenza di una trasmissione di tipo autosomico. Viene proposta una trasmissione “sex-limited”.
  相似文献
7.
We investigated the occurrence of migraine without aura (MO) and migraine with typical aura (MA) amongst probands with familial hemiplegic migraine (FHM) and their first degree relatives in order to evaluate the relations between these syndromes. A total of 44 FHM probands and 240 first degree relatives were identified in the Danish population. The pattern of familial aggregation was assessed by population relative risk (PRR) calculations. Amongst FHM probands the PRR of MO was 1.5 (95% CI: 0.8-2.2), whereas the PRR of MA was 7.1 (95% CI: 5.0-9.2). Thus, compared with the general population, FHM probands had no increased risk of MO but a significantly increased risk of MA. A similar pattern was seen amongst their first degree relatives, who had no increased risk of MO, whereas the risk of MA was significantly increased; 7.6 times in FHM-affected first degree relatives and 2.4-times in non-FHM-affected first degree relatives. These results are contrary to a sharing of genetic mechanisms between FHM and MO. Furthermore, they suggest that the genetic abnormality causing FHM may also cause attacks with the symptomatology of MA.  相似文献
8.
Validation of a migraine-specific questionnaire for use in family studies   总被引:2,自引:0,他引:2  
The availability of valid migraine-specific questionnaires is important when large numbers of migraine patients have to be analysed. The Finnish Migraine-Specific Questionnaire has been validated in two stages. In the first, a clinical diagnosis of migraine was reached, using International Headache Society criteria, in 100 consecutive patients. Migraine was then diagnosed independently on the basis of responses to the Finnish Migraine-Specific Questionnaire. In the second stage, responses to 100 questionnaires returned consecutively in a family study in progress were analysed, and respondents were contacted by telephone for interview and diagnosis of migraine. Contact proved impossible in six cases. The sensitivity of the questionnaire for migraine was 0.99 (167 out of 168; validation stages 1 and 2 combined) and specificity was 0.96 (25 out of 26 cases; validation stage 2). It also proved possible to differentiate between migraine with and without aura on the basis of responses to the Finnish Migraine-Specific Questionnaire: chance-corrected agreement (Cohen's kappa) was 0.804 in relation to diagnoses reached on the basis of responses to the Finnish Migraine-Specific Questionnaire and clinically was 0.858 in relation to diagnoses reached on the basis of responses to the Finnish Migraine-Specific Questionnaire combined with the results of the telephone interviews. A value for Cohen's kappa > 0.75 indicates good agreement. Therefore, use of the Finnish Migraine-Specific Questionnaire in research into migraine genetics is justified.  相似文献
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Persistent ocular motor disturbances in migraine without aura   总被引:2,自引:0,他引:2  
Abstract. Activation in the brain stem during attacks of migraine has been detected with the use of functional imaging, suggesting an important role of the brain stem in this disorder. Recent findings showed permanent cerebellar signs in common forms of migraine. Both structures are involved in generating smooth pursuit eye movements. The aim of this study was to investigate migraine patients by electrooculography to identify persisting abnormalities that may provide a clinical sign of continuous dysfunction of these structures. We investigated 25 patients with migraine without aura and 15 controls. Smooth pursuit was pathologically changed, velocity gain was reduced and phase was significantly altered in migraineurs as compared to controls. The data provide clinical evidence of a persistent dysfunction in the brain stem and certain cerebellar structures in migraine patients. This is consistent with previous studies indicating an important role of the brain stem in generating migraine attacks.  相似文献
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