首发精神分裂症阳性症状为主型患者脑弥散张量成像研究

目的 探讨首发精神分裂症阳性症状为主型患者主要脑区白质纤维束有无异常.方法 对未系统使用过精神药物治疗的20例首发精神分裂症阳性症状为主型患者和20名正常对照进行磁共振弥散张量成像(DTI)扫描,测量胼胝体膝部、压部、双侧额叶白质、双侧扣带束前部和双侧海马头部分各向异性(FA)值.结果 ①患者组及对照组组内比较,左右侧FA值差异均无统计学意义(P>0.05).②患者组左侧海马头和胼胝体压部FA值[(0.17±0.03),(0.73±0.09)]显著低于对照组[(0.20±0.02),(0.79±0.05)],差异均有统计学意义(P<0.05);③患者组左右侧扣带束前部FA值[(0.28±0.06),(0.29±0.05)]低于对照组[(0.43±0.07),(0.38±0.08)],差异均有统计学意义(P<0.01).结论 首发精神分裂症阳性症状为主型患者双侧扣带束前部、胼胝体压部及左侧海马头的白质纤维束完整性受损,提示其可能存在脑神经发育连接异常.     

精神分裂症患者及其健康同胞的弥散张量成像研究

目的 探索精神分裂症患者及其健康同胞是否存在类似的脑白质完整性异常.方法 采用弥散张量成像技术扫描精神分裂症患者(患者组)、患者的健康同胞(同胞组)和健康对照(对照组)的全脑,用基于体素的分析方法比较3组的白质纤维分数各向异性(fractional anisotropy,FA)值.结果 在左侧前额叶和海马区,患者组(左侧前额叶:0.303±0.006,海马:0.310±0.O05)和同胞组(左侧前额叶:0.320±0.006,海马:0.318±0.006)的白质FA值显著小于对照组(左侧前额叶:0.338±0.007,海马:0.338±0.005),差异均有统计学意义(P＜0.05),患者组与同胞组的差异无统计学意义(P＞0.05);在左侧前扣带区,患者组白质FA值(0.391±0.006)显著小于同胞组(0.423±0.006)和对照组(0.412±0.007),差异有统计学意义(P＜0.05),同胞组的FA值大于对照组,但差异无统计学意义(P＞0.05).结论 精神分裂症患者及其健康同胞存在相似的脑白质完整性异常,左侧前额叶和海马白质FA值降低可能意味着精神分裂症的患病风险,左侧前扣带的白质FA值降低则可能是向该病转换的决定因素.     

轻度认知功能障碍与脑白质弥散张量成像的相关性研究

目的通过磁共振弥散张量成像研究不同区域脑白质损害与轻度认知功能(MCI)的关系。方法纳入2015年7月至2016年2月我院的住院患者56例为研究对象,其中MCI组34例,认知功能正常组22例。所有研究对象进行一般情况检查,完成神经心理学量表检测。通过头颅磁共振弥散张量成像(DTI)检查对不同脑区白质纤维进行部分各向异性(FA)值测量。结果 MCI组患者与认知功能正常组相比,右侧额叶FA值(0.335±0.068)、左侧颞叶白质FA值(0.391±0.032)及胼胝体膝部FA值(0.658±0.053)降低,差异具有统计学意义(P0.05)。将上述FA值和MMSE、Mo CA量表中各认知域进行典型相关分析,结果显示右侧额叶白质FA值与注意与计算力呈正相关,左侧颞叶白质和胼胝体膝部FA值与记忆力呈正相关(P0.05)。结论 MCI患者注意与计算力的障碍可能与右侧额叶白质损害有关,而左侧颞叶白质及胼胝体膝部白质的损害可能导致早期的记忆障碍。DTI可能成为超早期识别与诊断MCI的新方法。     

精神分裂症首次发病患者的脑扩散张量成像研究

目的 利用磁共振扩散张量成像(DTI)技术研究未经药物治疗的精神分裂症首次发病(以下简称首发)患者主要脑区白质纤维束的异常.方法 选取26例首发精神分裂症患者(患者组)和20名健康志愿者(对照组)行脑DTI扫描(两组均为右利手),测量胼胝体膝部、压部、双侧额叶白质、扣带束前部及海马头的部分各向异性(FA)值.结果 (1)对照组左侧扣带束FA值(0.428±0.067)大于右侧(0.375±0.079;P＜0.05).(2)患者组两侧相对应感兴趣区FA值差异均无统计学意义(P＞0.05).(3)患者组左右侧胼胝体压部FA值(均为0.734±0.085)、左右侧扣带束前部FA值(0.300±0.068和0.306 4±0.062)均低于对照组(0.785±0.045,0.428±0.067,0.375±0.079;均P＜0.05).结论 首发精神分裂症患者存在双侧扣带束、胼胝体压部白质纤维束的受损,支持脑内连接异常假说.     

首发偏执型精神分裂症患者的脑白质磁共振弥散张量成像研究

目的探讨首发未用药的偏执型精神分裂症患者的多个脑区白质磁共振弥散张量成像(diffusion tensor imaging,DTI)的特点,以期为精神分裂症"脑内连接异常的假说"提供依据。方法选取20例首发偏执型精神分裂症患者,应用DTI扫描,检测脑内21个感兴趣区(regions of interest,ROI)白质纤维的微细结构,并与20名年龄、性别和文化程度相匹配的正常对照比较。结果患者组额叶、内囊前肢、外囊的左右两侧FA值和左侧颞叶、左侧内囊膝部、胼胝体膝部FA值小于对照组(P0.05)。患者组额叶左右侧FA值差异无统计学意义(P0.05),而对照组左侧大于右侧(P0.05);患者组内囊膝部和后肢FA值右侧大于左侧(P0.05),而对照组左侧大于右侧(P0.05)。患者组双侧外囊FA值均小于对照组(P0.05)。结论未用药首发偏执型精神分裂症患者脑内多个白质区部分各向异性降低,尤其是额叶皮层下环路更加显著,数个白质区部分各向异性的正常"左右"的偏侧性缺失或倒置,支持精神分裂症脑内连接异常的神经病理假说。     

MRI正常额叶癫(癎)患者的MR扩散张量成像研究

目的应用MR扩散张量成像（DTI）技术探讨MRI正常的额叶癫痢患者与运动相关白质是否存在隐匿性病变。方法对临床确诊的16例MRI正常的额叶癫痫患者发作间期和30例健康志愿者行常规MRI和DTI检查,定量测量额叶皮层下白质、胼胝体膝部和压部、内囊前肢和后肢及外囊的平均扩散系数（DCavg）和部分各向异性（FA）值,并进行统计学分析。结果MRI正常的额叶癫痴患者额叶皮层下白质、胼胝体膝部区域的DCavg值显著高于正常人（P〈0．01）,皮层下白质的FA值显著低于正常人（P〈0．01）,胼胝体膝部的FA与正常人无差异。结论MRI正常的额叶癫痫患者存在额叶隐匿性损害DTI为发现致痢灶提供理论依据,具有临床应用价值。     

癫(癎)患者磁共振弥散张量成像及其与智能损害的关系

目的 采用磁共振弥散张量成像技术研究癫(癎)患者智能损害的相关脑区及病理改变,探讨其可能的发生机制.方法 对44例癫(癎)患者和20名健康人进行韦氏成人量表和磁共振弥散张量成像检查.结果 癫(癎)组患者的全量表智商(FIQ,98.19±17.76)、语言智商(VIQ,100.52±17.63)、操作智商(PIQ,95.10±16.72)均显著低于对照组(VIQ:109.77±13.54、PIQ:108.11±12.17、FIQ:109.81±10.57).癫(癎)智能缺损患者胼胝体膝部平均扩散率(MD值)高于癫(癎)智能正常组,双侧内囊前肢、左侧内囊膝部、左侧外囊、双侧枕叶白质和双侧壳核的各向异性(FA)值低于癫(癎)智能正常组,差异有统计学意义(P＜0.05).相关分析发现,右枕叶FA值与FIQ呈正相关;右侧额叶MD值与VIQ呈负相关;右侧枕叶FA值与VIQ呈正相关;两侧枕叶FA值均与PIQ正相关.结论 本组癫(癎)患者在FIQ、VIQ、PIQ均存在损害.癫(癎)患者伴有智能缺损的胼胝体膝部平均扩散率增加,双侧内囊前肢、左侧内囊膝部、左侧外囊、双侧枕叶白质和双侧壳核各向异性减低;枕叶的各向异性减低与FIQ减低有关,额叶平均扩散率增加与VIQ减低有关,皮质下白质在认知中可能起较重要的作用.     

基于弥散张量成像技术的双相障碍患者脑白质纤维束异常分析

目的探讨抑郁期双相障碍患者脑白质纤维束的变化。方法选取42例未用药双相障碍抑郁期患者(患者组)和年龄、性别及右利手与之相匹配的59名对照者(对照组)进行DTI检查,根据约翰霍普金斯大学人类白质纤维束图谱,将大脑白质组织分割为20条公认存在的粗大纤维束,应用PANDA软件计算每个被试者每条白质纤维束的4项平均弥散属性,采用非参数置换检验比较2组在20条白质纤维束上弥散指标的差异,将差异有统计学意义的脑白质纤维束弥散指标与临床指标进行Pearson相关分析。结果患者组左侧钩束各向异性分数(fractional anisotropy,FA)值低于对照组(0.40±0.01与0.41±0.01,P=0.001);胼胝体辐射线额部FA值低于对照组(0.36±0.02与0.38±0.02,P<0.001);左侧钩束径向弥散率(radial diffusivity,RD)值高于对照组(6.57×10^-4±2.41×10^-5与6.40×10^-4±2.42×10^-5,P=0.0017)。Pearson相关分析显示,2组弥散指标差异有统计学意义的白质纤维束与临床指标之间均无相关性。结论抑郁期双相障碍患者钩束及胼胝体辐射线额部存在脑白质完整性破坏。     

精神分裂症首次发病患者及其健康同胞的脑结构网络研究北大核心CSCD

目的探讨精神分裂症患者及其未患病同胞是否存在相似的脑白质结构网络异常。方法43例首次发病、未服用抗精神病药的精神分裂症患者（病例组）、40名精神分裂症患者的非患病同胞（同胞组）及55名未患病的志愿者（对照组）完成脑磁共振扫描;采用白质纤维束追踪技术构建脑白质网络,并采用单因素方差分析对3组数据进行比较分析。结果病例组（5．14±0．36和0．25±0．02）及同胞组（5．25±0．27和0．25±0．01）脑白质网络连接强度和全局效率均显著低于对照组（5．41±0.24和0．26±0．01;F=16．55,P〈0．01,未校正）,病例组和同胞组差异无统计学意义（P〉0．05）;病例组（7.42±1.04,7．58±1．25和3．72±1.46）及同胞组（7．51±1．18,7．87±1．10和4．42±1．09）左侧楔前叶、左侧前扣带和右侧眶额叶区节点度均显著低于对照组（8．22±1．07,8．31±0．99和4．80±0．92;P〈0．05,FDR校正）,病例组右侧眶额叶区节点度显著低于同胞组（P〈0．05,FDR校正）;病例组（0．31±0．02、0．32±0．03和0．25±0．03）及同胞组（0．31±0．02、0．33±0．02和0．27±0．03）左侧楔前叶、左侧前扣带和右侧眶额叶区介数中心度均显著低于对照组（0．32±0．02、0．34±0．02和0．28±0．02;P〈0．05,FDR校正）,病例组右侧眶额叶区介数中心度显著低于同胞组（P〈0．05,FDR校正）。结论精神分裂症患者及其未患病同胞存在相似的脑白质结构网络的异常,这些结构连接异常可能是精神分裂症的易患性生物学特征。     

精神分裂症患者全脑白质纤维弥散张量成像的初步研究

目的运用能够提示白质纤维(white matter,WM)完整性的弥散张量成像(diffusion tensor imaging,DTI)技术,探讨精神分裂症患者全脑白质纤维是否受到损害。方法对21例精神分裂症患者(患者组)和21名健康人(对照组)进行全脑DTI扫描,用SPM2(Statistical Parametric Maps,SPM)软件对图像进行处理,采用以像素为基础的分析方法(voxel-based analysis,VBA)对两组的分数各向异性(fractional anisotropy,FA)值进行组间比较。结果患者组下列脑区的FA值显著低于对照组(P<0·001):左侧额眶区和右侧额中回的白质、双侧颞下回白质、双侧顶叶内侧白质、右侧前扣带、双侧海马、双侧大脑脚、双侧岛叶、右侧放射冠和右侧小脑上脚。结论精神分裂症多个部位脑白质纤维的完整性受到破坏。     

Magnetic resonance imaging of boys with attention-deficit/hyperactivity disorder and their unaffected siblings

OBJECTIVE: To study the influence of increased familial risk for attention-deficit/hyperactivity disorder (ADHD) on brain morphology. METHOD: Volumetric cerebral measures based on whole brain magnetic resonance imaging scans from 30 boys with ADHD, 30 of their unaffected siblings, and 30 matched controls were compared. RESULTS: Both subjects with ADHD and their unaffected siblings displayed reductions in right prefrontal gray matter and left occipital gray and white matter of up to 9.1% (p < 0.05). Right cerebellar volume was reduced by 4.9% in subjects with ADHD (p = 0.026) but not in their unaffected siblings (p = 0.308). A 4.0% reduction in intracranial volume was found in subjects with ADHD (p = 0.031), while a trend was observed in their unaffected siblings (p = 0.068). CONCLUSIONS: The volumetric reductions in cortical gray and white matter in subjects with ADHD are also present in their unaffected siblings, suggesting that they are related to an increased familial risk for the disorder. In contrast, the cerebellum is unaffected in siblings, suggesting that the reduction in volume observed in subjects with ADHD may be more directly related to the pathophysiology of this disorder.     

Altered white‐matter integrity in unaffected siblings of probands with autism spectrum disorders

Despite the evidence of altered white‐matter tract property in individuals with autism spectrum disorder (ASD), little is known about their unaffected siblings. This study aimed to investigate white‐matter integrity in unaffected siblings of ASD probands. Thirty‐nine unaffected siblings (mean age 15.6 ± 6.0 years; 27 males, 69.2%) and 39 typically developing controls (TDC) (14.2 ± 5.6 years; 26 males, 66.7%) were assessed with diffusion spectrum images and neuropsychological tests. Using the tract‐based automatic analysis and the threshold‐free cluster weighted (TFCW) scores, we searched for the segments among 76 tracts with the largest difference over the entire brain compared to TDC. Tract integrity was quantified by calculating the mean generalized fractional anisotropy (mGFA) values of the segments with the largest difference in TFCW scores. Unaffected siblings showed reduced mGFA in the bilateral frontal aslant tracts, the right superior longitudinal fasciculus 2 (SLF2), the frontostriatal tracts from the right dorsolateral and left ventrolateral prefrontal cortices, the thalamic radiations of the left ventral and the right dorsal thalamus, the callosal fibers of the splenium, and the increased mGFA of the callosal fibers of the precuneus and the left inferior longitudinal fasciculus. Among these, reduced right SLF2 mGFA was associated with social awareness deficits; impaired frontostriatal tract was associated with internalizing problems, while right frontal aslant tract integrity was associated with visual memory deficits. In conclusion, unaffected siblings showed the aberrant integrity of several white‐matter tracts, which were correlated with clinical symptoms and neurocognitive dysfunction. The altered tract integrity could be further examined in the probands with ASD. Hum Brain Mapp 38:6053–6067, 2017. © 2017 Wiley Periodicals, Inc.     

Fetal hypoxia and structural brain abnormalities in schizophrenic patients, their siblings, and controls.

BACKGROUND: Cortical gray matter reductions and cerebrospinal fluid (CSF) increases are robust correlates of schizophrenia, but their relationships to obstetric and other etiologic risk factors remain to be established. METHODS: Structured diagnostic interviews, obstetric hospital records, and magnetic resonance imaging scans of the brain were obtained for 64 schizophrenic or schizoaffective patients (representative of all such probands in a Helsinki, Finland, birth cohort), along with 51 of their nonpsychotic full siblings and 54 demographically similar controls without family histories of psychosis. RESULTS: Fetal hypoxia predicted reduced gray matter and increased CSF bilaterally throughout the cortex in patients (gray matter effect sizes, -0.31 to -0.56; CSF effect sizes, 0.25 to 0.47) and siblings (gray matter effect sizes, 0.33 to 0.47; CSF effect sizes, 0.17 to 0.33), most strongly in the temporal lobe. Effect sizes were 2 to 3 times greater among cases born small for their gestational age. Hypoxia also correlated significantly with ventricular enlargement, but only among patients (effect size, 0.31). In contrast, fetal hypoxia was not related to white matter among patients and siblings, nor to any tissue type in any region among controls. The associations were independent of family membership, overall brain volume, age, sex, substance abuse, and prenatal infection. CONCLUSIONS: Fetal hypoxia is associated with greater structural brain abnormalities among schizophrenic patients and their nonschizophrenic siblings than among controls at low genetic risk for schizophrenia. This pattern of results points to a gene-environment interaction account of the disorder's neurodevelopmental pathogenesis.     

Voxel-based morphometry analysis reveals frontal brain differences in participants with ADHD and their unaffected siblings

BackgroundData on structural brain alterations in patients with attention-deficit/hyperactivity disorder (ADHD) have been inconsistent. Both ADHD and brain volumes have a strong genetic loading, but whether brain alterations in patients with ADHD are familial has been underexplored. We aimed to detect structural brain alterations in adolescents and young adults with ADHD compared with healthy controls. We examined whether these alterations were also found in their unaffected siblings, using a uniquely large sample.MethodsWe performed voxel-based morphometry analyses on MRI scans of patients with ADHD, their unaffected siblings and typically developing controls. We identified brain areas that differed between participants with ADHD and controls and investigated whether these areas were different in unaffected siblings. Influences of medication use, age, sex and IQ were considered.ResultsOur sample included 307 patients with ADHD, 169 unaffected siblings and 196 typically developing controls (mean age 17.2 [range 8–30] yr). Compared with controls, participants with ADHD had significantly smaller grey matter volume in 5 clusters located in the precentral gyrus, medial and orbitofrontal cortex, and (para)cingulate cortices. Unaffected siblings showed intermediate volumes significantly different from controls in 4 of these clusters (all except the precentral gyrus). Medication use, age, sex and IQ did not have an undue influence on the results.LimitationsOur sample was heterogeneous, most participants with ADHD were taking medication, and the comparison was cross-sectional.ConclusionBrain areas involved in decision making, motivation, cognitive control and motor functioning were smaller in participants with ADHD than in controls. Investigation of unaffected siblings indicated familiality of 4 of the structural brain differences, supporting their potential in molecular genetic analyses in ADHD research.     

White matter integrity correlates with residual consciousness in patients with severe brain injury

Previous studies have suggested that white matter disruption plays an important role in disorders of consciousness (DOC) after severe brain injury. Nevertheless, the integrity of white matter architecture supporting consciousness and its relations with clinical severity in patients with DOC remain to be established. In this study, diffusion tensor imaging (DTI) data was collected from 14 DOC patients and 15 healthy control subjects. We combined tract-based spatial statistics (TBSS) with region of interest (ROI) analysis to examine differences of DTI metrics on white matter skeletons between DOC patients and healthy controls, and the association between white matter integrity and patients’ residual consciousness assessed by Coma Recovery Scale-Revised (CRS-R). We found that: (1) patients with DOC had widespread white matter integrity disruptions, especially in the fornix; (2) the alteration of white matter microstructure was mainly attributed to the increase in radial diffusivity, possibly reflecting demyelination; (3) the behavioral CRS-R assessment score was positively correlated with white matter integrity in the fornix, uncinate fasciculus, pontine crossing tract, and posterior limb of internal capsule. Our results suggest that despite the widespread abnormalities of white matter following severe brain injury, the impairment of consciousness is likely to result from disruptions of key pathways that link brain regions in distributed networks.     

Involvement of the Central Nervous System in Congenital Muscular Dystrophies

Three children, two siblings and one unrelated child, with congenital muscular dystrophy with central nervous system (CNS) involvement are discussed. The siblings appeared to suffer from a relatively mild myopathy with progressive brain disease, of which brain biopsy in one showed astrocytic proliferation in the white matter. In the patient with severe muscle disease, autopsy showed widespread patchy demyelination in the white matter and developmental abnormalities in the cerebral and cerebellar cortex. These patients differ from the Japanese (Fukuyama) cases of CMD in the severity of the changes in the cerebral white matter, and from Santavuori's cases in the absence of ocular abnormalities and hydrocephalus. Their unique nosology is discussed.     

Focal and global brain measurements in siblings of patients with schizophrenia

Background: It remains unclear whether structural brain abnormalities in schizophrenia are caused by genetic and/or disease-related factors. Structural brain abnormalities have been found in nonpsychotic first-degree relatives of patients with schizophrenia, but results are inconclusive. This large magnetic resonance imaging study examined brain structures in patients with schizophrenia, their nonpsychotic siblings, and healthy control subjects using global and focal brain measurements. Methods: From 155 patients with schizophrenia, their 186 nonpsychotic siblings, and 122 healthy controls (including 25 sibling pairs), whole-brain scans were obtained. Segmentations of total brain, gray matter (GM), and white matter of the cerebrum, lateral and third ventricle, and cerebellum volumes were obtained. For each subject, measures of cortical thickness and GM density maps were estimated. Group differences in volumes, cortical thickness, and GM density were analyzed using Structural Equation Modeling, hence controlling for familial dependency of the data. Results: Patients with schizophrenia, but not their nonpsychotic siblings, showed volumetric differences, cortical thinning, and reduced GM density as compared with control subjects. Conclusions: This study did not reveal structural brain abnormalities in nonpsychotic siblings of patients with schizophrenia compared with healthy control subjects using multiple imaging methods. Therefore, the structural brain abnormalities observed in patients with schizophrenia are for the largest part explained by disease-related factors.     

精神分裂症患者及其未发病一级亲属跨期决策的研究

目的探讨精神分裂症患者跨期决策能力是否受损,及其未发病一级亲属是否也存在一定程度上跨期决策能力的受损。方法选取25例精神分裂症患者,25名患者未发病的一级亲属及30名与年龄、教育程度相匹配的健康对照者,采用延迟折扣(Delay-discount)中文版实验范式评价跨期决策能力、成套的神经心理学测试分析三组神经心理学特征。折扣率k值反映跨期决策能力。结果患者组,亲属组及对照组的k值分别为(0.005±0.009),(0.011±0.014),(0.024±0.029),差异有统计学意义(F=9.487,P0.001);其中患者组与对照组、亲属组与对照组之间差异均有统计学意义(均P0.05),而患者组与亲属组差异无统计学意义(P0.05)。k值与一般神经心理学背景测试之间相关性差异均无统计学意义(P0.05)。结论精神分裂症患者跨期决策能力受损,未发病一级亲属也存在一定程度上跨期决策能力的损伤。     

Structural brain abnormalities in patients with schizophrenia and their healthy siblings

OBJECTIVE: The authors sought to investigate the contribution of genotype on structural brain abnormalities in schizophrenia. METHOD: Intracranial volumes and volumes of the cerebrum, white and gray matter, lateral and third ventricles, frontal lobes, caudate nucleus, amygdala, hippocampus, parahippocampal gyrus, and the cerebellum were measured in 32 same-sex siblings discordant for schizophrenia and 32 matched comparison subjects by means of magnetic resonance imaging. RESULTS: Third ventricle volumes did not differ between the schizophrenic patients and their healthy siblings. However, both had higher third ventricle volumes than did the comparison subjects. The schizophrenic patients had lower cerebrum volumes than did the comparison subjects, whereas the cerebrum volume of the healthy siblings did not significantly differ from the patients or comparison subjects. Additionally, patients with schizophrenia displayed a volume reduction of the frontal lobe gray matter and a volume increase of the caudate nuclei and lateral ventricles compared to both their healthy siblings and comparison subjects. Intracranial volume, CSF volume, or volumes of the cerebellum, amygdala, hippocampus, or the parahippocampal gyrus did not significantly differ among the patients, siblings, and comparison subjects. CONCLUSIONS: Healthy siblings share third ventricle enlargement with their affected relatives and may partially display a reduction in cerebral volume. These findings suggest that third ventricular enlargement, and to some extent cerebral volume decrease, may be related to genetic defects that produce a susceptibility to schizophrenia.