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1.
Fragile X syndrome: associated neurological abnormalities and developmental disabilities 总被引:8,自引:0,他引:8
K E Wisniewski J H French S Fernando W T Brown E C Jenkins E Friedman A L Hill C M Miezejeski 《Annals of neurology》1985,18(6):665-669
The fragile X syndrome is a frequent cause of developmental disabilities. It is associated primarily with nonprogressive X-linked mental retardation. The neurodevelopmental abnormalities of 25 males and 3 females are described. Mental retardation was mild in 4, moderate in 11, severe in 6, and profound in 2 patients, while 4 patients had only learning disabilities. The presence or absence of a developmental disability could not be determined in the youngest (8 months). Seven patients had had infantile autism and 7 had epilepsy. Generally no major focal neurological abnormalities were observed but most of the patients exhibited minor signs. The severity of developmental disabilities in our patients varied between and within families and between genders. All adult males had macroorchidism. Unusual facial features were present in 13 males but none were seen in the females. Familial occurrences were found in 18 cases (64%); 10 cases (36%) were sporadic. Overall, males were more severely affected than females. Diagnostic tests including computed tomographic scans, electroencephalograms, and evoked potentials did not disclose any specific abnormalities. 相似文献
2.
We performed this study to determine whether early- and late-onset Alzheimer's disease differ physiologically. Ten patients with a presenile (before 65 years old) onset of the disease and 16 with senile onset of the disease were evaluated clinically and neuropsychologically and studied with single photon emission computed tomography using the blood flow tracer [123I]N-isopropyl-p-iodoamphetamine. Although the presenile subjects had more severe neuropsychological abnormalities in all realms of cognitive function, including language, and showed greater reductions in regional blood flow than the older patients, they were also more severely demented, thus complicating interpretation of the results. Two indexes of cerebral perfusion, a ratio of regional flow compared with occipital flow and a left-right asymmetry index, demonstrated relative left frontal hypoperfusion in presenile- but not senile-onset patients and did not appear to be an artifact of the severity differences. Although no asymmetry of cognitive function was noted, the perfusion asymmetry provides biological evidence for an alteration in left-hemisphere function in patients with the early onset of Alzheimer's disease. 相似文献
3.
A patient became deeply comatose following a prolonged episode of cerebral hypoxia. Computed tomography performed within the first 24 hours showed marked hypodensity of the cerebral and cerebellar cortices, and the caudate and lenticular nuclei. These findings paralleled the distribution of typical hypoxic changes noted at postmortem examination. Computed tomographic abnormalities such as these may prove useful in establishing an early diagnosis of profound cerebral hypoxia. 相似文献
4.
Fernandez HH Friedman JH 《Archives of neurology》2002,59(12):1973; author reply 1973-1973; author reply 1974
5.
Akihiko Shiino Yasuo Morita Atsushi Tsuji Kengo Maeda Ryuta Ito Akira Furukawa Masayuki Matsuda Toshiro Inubushi 《Journal of cerebral blood flow and metabolism》2003,23(1):121-135
Measurement of cerebrovascular reserve capacity predicts the risk of ischemic insult in patients with major vessel occlusion. Blood oxygenation level-dependent (BOLD) imaging has the potential to estimate reserve capacity of the cerebral circulation noninvasively based on changes in the signal that reflect differences in the magnetic susceptibility of intravascular oxyhemoglobin and deoxyhemoglobin. The authors examined the feasibility of using the BOLD technique to assess cerebrovascular reserve capacity in patients with cerebrovascular occlusive disease by comparing results with an established method of measuring CBF. Ten patients with severe or complete occlusion of the internal carotid artery were compared with 17 healthy subjects to evaluate regional differences and identify variables that indicate a change in the BOLD signal. Dilation of cerebral vessels was induced by breath holding, and the R2* change was examined with gradient-echo, echo-planar imaging. Before measuring the regional change in the BOLD signal, actual timing of "activated" and "rest" periods was corrected by shifting the phase of a sine-wave template to obtain the largest correlation coefficient. Percent signal change was calculated on a pixel-by-pixel basis and was compared with CBF measured by single-photon emission computed tomography (SPECT) before and after acetazolamide challenge. The degree of impairment and the distribution of impaired areas detected by the BOLD study correlated with the results of SPECT. Overall sensitivity and specificity of the BOLD technique by visual inspection were 100% and 98.4%, respectively. A negative response (decreased CBF) frequently was observed in areas of exhausted reserve capacity, suggesting that a "steal" phenomenon exists. The percent change and the (Delta)CBF were well correlated (P < 0.01). The mean percent change in most areas of impaired reserve capacity was more than 2 SD below the mean values in healthy subjects. The present method of semiquantitative BOLD analysis can be used to create a map of the cerebral hemodynamic state. Furthermore, the development of reliable, generally accessible techniques for evaluating cerebral hemodynamics opens the door for clinical studies to monitor and treat patients with compromised reserve. This study is an attempt to develop such analysis. 相似文献
6.
We describe the seizure and EEG characteristics in a population of children with known Fragile X. The medical records of 135 genetically confirmed FXS patients receiving care in a Fragile X clinic and their available EEG reports were reviewed. The mean age was 5.94 years old including 18 males and 1 female. The mean age was 4–9 years old with an age range of 15 months to 13 years old. Twenty-two patients (16.3%) in the series had parent-reported behavior suspicious of seizures. Sixteen patients (14.1%, 1 female) had at least one EEG recorded for evaluation of clinical events suspicious for seizure, and three patients (2.2%) had an EEG in the context of a polysomnography for diagnosing sleep apnea. The mean age at EEG evaluation was 6.0 years (standard deviation 3.8 years). EEG findings included slowing of background rhythm (n = 9) and epileptiform discharges (n = 7). Four patients had normal EEGs (n = 4). Six patients (4.4% of the sample population) were diagnosed with epilepsy by both clinical seizure semiology and documented EEG abnormalities. Thirteen patients (68.4% of total) had episodes of staring and behavioral arrest with no EEG correlate, indicating non-epileptic events. Of the eight patients who underwent a repeat EEG, five patients had showed normalization in the posterior dominant rhythm over time, two patients had unchanged findings and one patient had worsening of his EEG. Our data warrant further prospective validation. 相似文献
7.
F F de la Cruz 《American journal of mental deficiency》1985,90(2):119-123
The physical, psychological, and cytogenetic characteristics of individuals with the Fragile X syndrome were reviewed. Prospects for therapy with folic acid, prenatal diagnosis, phenotype of heterozygotes for the marker X, and unresolved issues about the syndrome were discussed. 相似文献
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9.
Fragile X syndrome 总被引:1,自引:0,他引:1
Fragile X syndrome is the most important X-linked etiology of mental retardation and developmental disability currently known. Accumulating evidence also indicates that male and female carriers of the fragile X genetic abnormality demonstrate a relatively specific pattern of psychiatric disturbance. Fragile X males frequently manifest behaviors from the autistic spectrum whereas females show dysfunction in social interaction, thought processes, and affective regulation. In this review, an overview of the fragile X syndrome is presented with a focus on the occurrence of particular neuropsychiatric characteristics in males and females. Relevant data from recent genetic and neurobiological research is also described. The ability to study individuals with a specific genetic cause of psychopathology such as fragile X syndrome makes this condition of particular interest to biological psychiatry. 相似文献
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11.
BACKGROUND: The diagnosis of Parkinson disease is currently based on clinical evaluation. Functional neuroimaging using (123I) beta-carboxymethyoxy-3-beta-(4-iodophenyl) tropane (CIT) and single-photon emission computed tomography (SPECT) provides information on the integrity of the dopaminergic system in vivo and is a promising diagnostic tool in early Parkinson disease. OBJECTIVE: To evaluate the diagnostic accuracy of dopamine transporter imaging using (123I)beta-CIT in patients with suspected parkinsonian syndrome (PS). DESIGN: Community neurologists referred patients with suspected PS for imaging evaluation. Clinical diagnoses (positive PS or negative PS) were provided by the community neurologists and 2 movement disorder experts. We performed (123I)beta-CIT and SPECT imaging, and imaging diagnoses of positive PS or negative PS were assigned. A 6-month follow-up clinical diagnosis was assigned by a movement disorder expert blind to the imaging data, which represented the "gold standard" diagnosis for the study. RESULTS: Thirty-five patients with suspected PS were referred. Diagnoses in question included essential tremor, psychogenic parkinsonism, drug-induced parkinsonism, primary dystonia, and unspecified gait disorder. Comparing the community neurologist's diagnoses at referral with the gold standard diagnosis, there was dis agreement in 25.7% (sensitivity, 0.92; specificity, 0.30). Comparing the quantitative imaging diagnoses with the gold standard, there was disagreement in 8.6% (sensitivity, 0.92; specificity, 1.00). CONCLUSION: Performing (123I)beta-CIT and SPECT imaging at baseline appears to be a useful diagnostic tool to detect patients thought to have PS at baseline but who, after follow-up, do not have PS. 相似文献
12.
Predictive value of brain perfusion single-photon emission computed tomography in acute ischemic stroke 总被引:4,自引:0,他引:4
F Giubilei G L Lenzi V Di Piero C Pozzilli P Pantano S Bastianello C Argentino C Fieschi 《Stroke; a journal of cerebral circulation》1990,21(6):895-900
We investigated 32 patients with completed ischemic stroke less than or equal to 6 hours after the onset of symptoms by means of computed tomography, cerebral angiography, and technetium-99m-labeled hexamethylpropyleneamine oxime single-photon emission computed tomography to study cerebral blood flow. Follow-up computed tomography and cerebral blood flow studies were performed 1 week and 1 month after admission. Poor outcome at 1 month was evident in 18 (78%) of the 23 patients with severe neurologic deficit on admission and in 11 (92%) of the 12 patients with severe hypoperfusion in the affected hemisphere on admission. All 10 patients with severe impairment of both neurologic status and cerebral blood flow had a poor outcome at 1 month. We detected severe hypoperfusion in patients with large lesions on computed tomograms or cerebral artery occlusions on angiograms. Cerebral blood flow had increased at the 1-week follow-up despite different clinical outcomes. Our data provide evidence that early evaluation of cerebral blood flow with single-photon emission computed tomography is useful to detect subgroups of patients with different clinical outcomes during the acute phase of ischemic stroke. 相似文献
13.
Quantitative assessment of cerebral blood volume by single-photon emission computed tomography. 总被引:2,自引:0,他引:2
U Sabatini P Celsis G Viallard A Rascol J P Marc-Vergnes 《Stroke; a journal of cerebral circulation》1991,22(3):324-330
We implemented a technique for measuring regional cerebral blood volume using single-photon emission computed tomography and in vivo technetium-99m-labeled red blood cells and then evaluated it in nine normal human volunteers (controls) and seven patients with bilateral occlusion or severe stenosis of the internal carotid artery. We also measured regional cerebral blood flow using single-photon emission computed tomography and intravenous xenon-133 in the same subjects. We studied regional cerebral blood flow, regional cerebral blood volume, and their ratio before and after the intravenous injection of 1 g acetazolamide. Mean +/- SD baseline regional cerebral blood volume was higher in the patients than in the controls (4.1 +/- 0.6 versus 3.2 +/- 0.3 ml/100 g, p less than 0.01), and mean +/- SD baseline regional cerebral blood flow was lower in the patients than in the controls (40.5 +/- 11 versus 55.6 +/- 11 ml/100 g/min, p less than 0.05). Acetazolamide induced similar mean +/- SD increases in regional cerebral blood volume in both the controls and the patients (0.3 +/- 0.1 and 0.3 +/- 0.2 ml/100 g), while the mean +/- SD regional cerebral blood flow reactivity was significantly less in the patients than in the controls (12.6 +/- 7.6 versus 24.5 +/- 9.6 ml/100 g/min, p less than 0.05). Our study shows that single-photon emission computed tomography can provide quantitative estimates of both regional cerebral blood volume and regional cerebral blood flow in humans. 相似文献
14.
Assessment of quantitative computed tomographic cerebral perfusion imaging with H2(15)O positron emission tomography 总被引:3,自引:0,他引:3
Gillard JH Minhas PS Hayball MP Bearcroft PW Antoun NM Freer CE Mathews JC Miles KA Pickard JD 《Neurological research》2000,22(5):457-464
Assessment of quantitative cerebral blood flow on a conventional fast CT machine without the use of specialized equipment may be valuable in the investigation of acute stroke and head injury. We aimed to compare a single slice CT perfusion sequence with H2(15)O positron emission tomography using the sagittal sinus as an input function, a method that avoids unnecessary orbital irradiation. Eight patients were studied, two patients with gliomas, and six with arteriovenous malformations. The dynamic CT perfusion sequence was performed by acquiring the same 10 mm slice 10 times over 30 sec during a 50 ml bolus of intravenous contrast medium given at a rate of 7.5 ml sec-1 using a power injector. The CT perfusion studies were completed without complication. Co-registration was sub-optimal in one patient. Overall the correlation between the two methodologies was encouraging with an average r2 value of 0.524 for individual analyses. When two patients with high flow arteriovenous malformations were excluded the average r2 value increased to 0.640. The results of this CT perfusion methodology are encouraging. Having shown its feasibility, further studies in conditions with lower rates of cerebral blood flow are warranted. 相似文献
15.
脆性X综合征(fragile X syndrome,FXS)是一种最常见的遗传性智力障碍.这种智力障碍疾病主要是由于脆性X智力低下蛋白(fragile X mental retardation protein,FMRP)的缺失引起.FMRP是一种RNA结合蛋白,通过调节与其结合的信使RNA的翻译而调节神经元内的信号传导.很多FXS病人表现出较高的癫痫发作易感性.癫痫是一种慢性神经系统疾病.它的主要症状是反复的癫痫发作.癫痫发作是由大脑神经元的异常高兴奋性和同步放电引起的.FMEP缺失引起的神经元形态异常和神经元内信号传导的异常均可导致癫痫发作.本文结合在FXS和癫痫病两方面上取得研究结果综合分析,探讨FXS病人癫痫高易感性的发病机理,并对其他智力障碍疾病中的癫痫高易感性的机制的研究做一展望. 相似文献
16.
Fumihiko Sakai Hisaka Igarashi Syuichi Suzuki Yoshiaki Tazaki 《Acta neurologica Scandinavica》1989,80(S127):9-13
Abstract– Single-photon emission computed tomography (SPECT) was used for the measurement of regional cerebral blood flow (CBF), cerebral blood volume (CBV) and cerebral hematocrit (Hct). CBF was measured using N-isopropyl-p-I-123-Iodoamphetamine. CBV was measured by both RBC tracer (Tc-99m RBC) and plasma tracer (Tc-99m human serum albumin) and cerebral hematocrit (Hct) was calculated. In normals, the cerebral-to-large vessel Hct ratio was 75.9%. Isovolemic hemodilution in patients with high Hct tended to increase the cerebral-to-large vessel Hct ratio. Low CBF, high CBV and slow cerebral blood mean transit time (MTT by dynamic CT scanning) was seen during the acute stage of completed infarction and during the symptom-free interval of TIA. Cerebral Hct was increased in the ischemic region of poor prognosis. 相似文献
17.
A single-photon emission computed tomography study of hypoperfusion after subarachnoid hemorrhage 总被引:3,自引:0,他引:3
S Davis J Andrews M Lichtenstein A Kaye B Tress S Rossiter N Salehi D Binns 《Stroke; a journal of cerebral circulation》1990,21(2):252-259
We used single-photon emission computed tomography with technetium-99m hexamethylpropylene amine oxime in 18 studies on 13 patients with subarachnoid hemorrhage to determine whether any changes in cerebral blood flow could be correlated with clinical or computed tomographic evidence of delayed ischemia. Among the seven patients without focal neurologic deficits, regional cerebral hypoperfusion was demonstrated in only one who died. Among the 10 patients with aneurysmal subarachnoid hemorrhage, one died before surgery, and six developed postoperative delayed ischemic deficits, of whom two died. Among the patients with angiographically documented aneurysms, regional hypoperfusion correlated with the presence and severity of delayed neurologic deficits, whereas correlative computed tomographic scans showed either early infarction or no relevant abnormality. This technique facilitates early diagnosis of cerebral tissue hypoperfusion due to vasospasm after subarachnoid hemorrhage. 相似文献
18.
Fragile X syndrome: assessment and treatment implications 总被引:1,自引:0,他引:1
Fragile X syndrome (FraX) is the most common known cause of inherited mental impairment. FMR1 gene mutations, the cause of FraX, lead to reduced expression of FMR1 protein and an increased risk for a particular profile of cognitive, behavioral, and emotional dysfunction. The study of individuals with FraX provides a unique window of understanding into important disorders such as autism, social phobia, cognitive disability, and depression. This review highlights the typical phenotypic features of individuals with FraX, discussing the apparent strengths and weaknesses in intellectual functioning, as evidenced from longitudinal follow-up studies. It also discusses recent neuroanatomic findings that may pave the way for more focused disease-specific pharmacologic and behavioral interventions. This article describes the results of recent medication trials designed to target symptoms associated with FraX. It also describes some recent behavioral interventions that were conducted in our laboratory. 相似文献
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20.
Anoop R. Varma P. R. Talbot Julie S. Snowden James J. Lloyd Humberto J. Testa David Neary 《Journal of neurology》1997,244(6):349-359
The purpose of this study was to investigate patterns of 99mTc-HMPAO single-photon emission computed tomography (SPECT) abnormality in Lewy body disease (LBD) and to compare findings
with those encountered in Alzheimer’s disease (AD). The study group comprised 20 consecutive patient referrals fulfilling
clinical criteria for LBD. All patients had fluctuating cognitive impairment and ‘subcortical’ dysfunction with or without
perceptuospatial and/or linguistic impairment. Six patients had asymmetrical signs of parkinsonism (three left-sided and three
right-sided), and 14 patients had symmetrical features of extrapyramidal involvement. 99mTc-HMPAO SPECT imaging was performed on LBD patients and findings compared with those of 57 patients with ‘probable’ AD and
11 normal age-matched controls. Within the LBD and AD groups, patterns of cortical and subcortical blood-flow abnormality
were compared with patterns of cognitive and neurological breakdown. LBD was associated with bilateral posterior cortical
blood flow abnormality, a pattern strikingly similar to that found in AD. Within the LBD group, cortical blood-flow abnormality
was found to reflect patterns of neurological dysfunction (parkinsonism) indicative of subcortical involvement. In contrast,
cortical blood-flow changes did not reflect patterns of neuropsychological impairment suggestive of cortical dysfunction.
Within the AD group, cortical blood-flow changes were mirrored by the pattern of neuropsychological impairment. Findings support
the notion that cortical blood-flow abnormality in LBD might reflect a combination of direct cortical pathology and cortical
deafferentation secondary to subcortical Lewy body pathology. It would appear that 99mTc-HMPAO SPECT imaging is of limited value in the clinical differentiation of LBD and AD.
Received: 30 September 1996 Received in revised form: 6 February 1997 Accepted: 12 February 1997 相似文献