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Heterogeneity among the spinocerebellar ataxias (SCA) has been shown on clinical, biochemical, and genetic criteria. Among the autosomal dominant SCAs, several kindreds have shown loose linkage to the HLA loci on chromosome 6, while linkage in other kindreds has been rejected. The advent of multipoint linkage analysis allows the use of several marker loci simultaneously, thus increasing the amount of usable information. We have reanalyzed linkage data from a large kindred with SCA and provide evidence for a telomeric location of the SCA gene in this family. Knowledge of the relative gene location will ease the identification of the SCA gene by reducing the size of the chromosomal regions that must be examined. 相似文献
13.
Dr. Elina Ikonen Armi Salo Mirja Somer Hannu Somer Leena Pääkkönen Leena Peltonen 《American journal of medical genetics. Part A》1992,43(4):753-758
A 15-year-old boy with a terminal deletion of the short arm of chromosome 4 is described. The patient has a mild clinical phenotype that is incompatible with Wolf-Hirschhorn syndrome. Careful neurological examination including CT scan did not show any signs of Huntington disease. The chromosomal breakpoint was analyzed by means of polymorphic DNA probes localized close to the tentative Huntington (HD) locus. The breakage has occurred between D4S43 and D4S90 loci and thus deletes part of the chromosomal candidate regions for the HD locus. © 1992 Wiley-Liss, Inc. 相似文献
14.
Perfusion is a crucial physiological parameter for tissue function. To obtain perfusion-weighted images and consequently to measure cerebral blood flow (CBF), a newly developed flow-sensitive alternating inversion recovery (FAIR) technique was used. Dependency of FAIR signal on inversion times (TI) was examined; signal is predominantly located in large vessels at short TI, whereas it is diffused into gray matter areas at longer TI. CBF of gray matter areas in the human brain is 71 ± 15 SD ml/100 g/min (n = 6). In fMRI studies, micro- and macrovessel inflow contributions can be obtained by adjusting TIs. Signal changes in large vessel areas including the scalp were seen during finger opposition at a TI of 0.4 s; however, these were not observed at a longer TI of 1.4 s. To compare with commonly used BOLD and slice selective inversion recovery techniques, FAIR and BOLD images were acquired at the same time during unilateral finger opposition. Generally, activation sites determined by three techniques are consistent. However, activation of some areas can be detected only by FAIR, not by BOLD, suggesting that the oxygen consumption increase couples with the CBF change completely. Relative and absolute CBF changes in the contralateral motor cortex are 53 ± 17% SD (n = 9) and 27 ± 11 SD ml/100 g/min (n = 9), respectively. 相似文献
15.
A. D. Craig Jr J. O. Dostrovsky 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1991,85(2):470-474
Summary The technique of antidromic mapping with a roving array of electrodes was used to demonstrate that lamina I trigeminothalamic cells responsive specifically to skin temperature project to the n. submedius (Sm) in the medial thalamus of the cat. This finding indicates that Sm receives thermoreceptive in addition to nociceptive information. 相似文献
16.
Distant consanguineous loops are often unknown or ignored during homozygosity mapping analysis. This may potentially lead to an increased rate of false-positive linkage results. We show that failure to take into account the distant loops may seriously underestimate the degree of consanguinity, especially for people from genetically isolated populations; in 6 Alzheimer's disease (AD) patients the distant loops accounted for 57.7 % of inbreeding on average. Theoretical evaluation showed that ignoring distant loops, which account for 18-75% of inbreeding, inflates the frequency of false positive conclusions substantially in 2-point linkage analysis, up to several hundred times. In multipoint linkage analysis of the 6 AD patients a chromosome-wide "empirical" significance of 5% corresponded to a true false positive rate of 11.1%. We show that converting multiple loops to a hypothetical loop capturing all inbreeding may be a convenient solution to avoid false positive results. When extended genealogic data are not available a hypothetical loop may still be constructed based on genomic data. 相似文献
17.
为了解脑外伤后病人精神心理和智力改变的客观依据,我们使用DantecConcerto~(TM)仪,对24例闭合性轻度脑外伤患者和14例正常人P_(300)分布地形图的变化进行了对比观察。结果发现正常组P_(300)高波幅区相对集中于Cz附近的椭园形区域内,而脑外伤组则从Cz向两侧颞后播散,潜伏期延长,波形分化不良,波幅反而较正常组高;重复试验时,正常组潜伏期略为缩短,波幅稍增高,分布更集中于Cz为中心的小范围内,而脑外伤组向整个后头部移动,潜伏期进一步延长,波幅普遍明显下降,唯有T_3点反而奇异地升高38%。作者认为以上改变可能是参与P_(300)发生的皮层和皮层下结构中的微细结构受损害而使其整合功能被削弱的结果。这一结果与认为P_(300)发生于大脑皮层及皮层下各结构的综合反应的观点是一致的。 相似文献
18.
BACKGROUND: Spatially discordant cellular alternans form a substrate for development of unidirectional block and ventricular fibrillation. However, the mechanisms responsible for discordant alternans remain poorly understood. Previous work suggests electrical restitution is critical to the development of alternans in single cells. OBJECTIVES: The purpose of this study was to investigate the hypothesis that spatial and temporal heterogeneities of restitution underlie the mechanism eliciting discordant alternans. METHODS: Steady-state pacing was used to elicit concordant cellular alternans in nine Langendorff-perfused guinea pig hearts. A single extrastimulus (S2) was applied every 51st beat following either the even or the odd beat of alternans. The cellular response to S2 was determined using optical mapping to generate action potential duration (APD) restitution curves from 256 ventricular sites for both the even and the odd beats. RESULTS: Restitution kinetics were temporally heterogeneous during alternans, as restitution curves between the even and the odd beats differed significantly. Temporal heterogeneity was quantified by the average separation of restitution between the two curves, or Delta-restitution. Delta-Restitution was spatially heterogeneous and proportional to the amount of alternans at a given ventricular site. A computer simulation based on the experimental results showed the mechanism of discordant alternans was dependent on both spatial and temporal heterogeneities of restitution. CONCLUSION: Both temporal and spatial heterogeneities of restitution exist during cellular alternans in the intact heart. Temporal heterogeneities of restitution, quantified by Delta-restitution, are proportional to the magnitude of cellular alternans. The combination of spatial and temporal heterogeneities of restitution may underlie the genesis of discordant alternans. 相似文献
19.
Jingxin Tianming Gang Geoffrey Ashley Lei Stephen T.C. 《Computerized medical imaging and graphics》2007,31(8):656-664
The human brain cortex is a highly convoluted sheet. Mapping of the cortical surface into a canonical coordinate space is an important tool for the study of the structure and function of the brain. Here, we present a technique based on least-square conformal mapping with spring energy for the mapping of the cortical surface. This method aims to reduce the metric and area distortion while maintaining the conformal map and computation efficiency. We demonstrate through numerical results that this method effectively controls metric and area distortion, and is computational efficient. This technique is particularly useful for fast visualization of the brain cortex. 相似文献
20.
Chronic motor cortex stimulation is a treatment option for neuropathic drug-resistant pain and possibly associated movement disorders. Preliminary studies suggest the possibility to treat symptoms of Parkinson disease in selected patients. Recently, MCS has been suggested to enhance motor recovery in patients with poststroke hemiparesis. One or more electrodes are placed extradurally over the motor cortex through a burr hole or a small craniotomy, and then connected to a totally implantable neurostimulator. The accurate positioning of the stimulating electrodes over the motor cortex is the key point of the surgical procedure. Motor cortex identification results from the integration of anatomical, neuroradiological, functional, and neurophysiological data, taking into account the huge population variability. Intraoperative neurophysiological mapping of the motor cortex is of paramount importance, in spite of very sophisticated neuroradiological mathematical reconstructions of the motor area. We discuss and compare the different techniques that are utilized by different authors. Moreover, clinical neurophysiology is also helpful in evaluating the results of this neuromodulation procedure and in hypothesizing the mechanisms that are put in play by MCS. 相似文献