Alzheimer's disease and corticobasal degeneration presenting as corticobasal syndrome

The aim of this article is to compare patients with Alzheimer's disease (AD) pathology and corticobasal degeneration pathology (CBD) presenting as corticobasal syndrome (CBS). Clinicopathologic series was used. Five patients with AD and 11 patients with CBD were clinically diagnosed with CBS. Patients with AD pathology had an earlier age of onset than patients with CBD pathology (58 vs. 68 years, P = 0.004), but the two groups had similar disease duration and core features of CBS. Tremors were only present in CBD cases (73%, P = 0.026), but myoclonus was more common in AD than CBD (80 vs. 18%, P = 0.036). Neuropsychological testing showed similar degrees of memory impairment and attentional deficits. ^99mTc‐HMPAO SPECT imaging demonstrated parietal hypoperfusion in AD patients and frontotemporal hypoperfusion in CBD patients. AD patients with clinical CBS have similar characteristics to CBD patients. Functional brain imaging may have greater utility than the clinical and neuropsychological features in differentiating AD presenting as CBS from CBD. © 2009 Movement Disorder Society     

Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome

Background: Studies on familial aggregation might be of help to evaluate whether the genetic background has a key role in Progressive Supranuclar Palsy (PSP) and Corticobasal Syndrome (CBS). Only a few studies are available. Objective: To evaluate the prevalence of positive family history (FH) in PSP and CBS in a large sample of patients. Methods: Two hundred and thirty patients and 110 controls entered the study. Patients underwent an extensive clinical, neurological and neuropsychological assessment as well as a structural brain imaging study. A clinical follow‐up further confirmed the diagnosis. Familial aggregation was carefully recorded by a standardised questionnaire. Results: One hundred and twenty‐nine PSP (age at onset = 66.6 ± 7.3, female = 46.1%) and 101 CBS (age at onset = 62.8 ± 8.9, female = 41.6%) were consecutively enrolled. Positive FH was found in 31.8% of PSP (n = 41) and in 31.7% of CBS (n = 32). Familial aggregation was lower in the age‐matched control group compared to patient group (21.8%, P = 0.05). Patients with PSP had higher positive FH for Parkinsonism (63.4%) when compared to FH for dementia (36.6%). In CBS, FH was equally distributed between Parkinsonism (53.1%) and dementia (46.9%). In addition, FH was not associated with age at disease onset in PSP (FH+ versus FH−, 67.0 ± 7.3 vs. 66.7 ± 7.1, P = 0.788) and in CBS (62.6 ± 7.9 vs. 62.9 ± 9.5, P= 0.877). Conclusions: These results argue for familial aggregation in PSP and CBS, further underlying the importance of genetic background in these disorders. Further studies on possible genetic modulators or genetic epistasis contributing to PSP and CBS development are warranted.     

Measuring disease progression in corticobasal syndrome

Corticobasal syndrome (CBS) is a complex neurodegenerative disorder with marked clinical, neuropsychological, and pathological heterogeneity. Measurement of disease progression in CBS is complex and little understood. This study aimed to establish clinical and neuropsychological indicators of prognosis in CBS. Patients with CBS were retrospectively recruited from a frontotemporal dementia specific research clinic. All patients underwent detailed clinical and neuropsychological testing including the frontotemporal dementia rating scale (FRS). Using the differences in FRS logit scores over a period of 12 months, CBS patients were divided into rapid and slow progressor groups. Demographic, clinical and neuropsychological features were compared between the two groups. Sixteen participants who met defined criteria were included (9 males, 7 females; mean age 65.8 ± 22 years; median symptom duration 51.8 ± 22 years; mean duration of follow-up 11.4 ± 2.8 months). There were no significant differences between the rapid and slow progressors in age, gender, symptom duration, motor/cognitive presentation, and ACE-R scores at baseline. Clinically, slow progressors were significantly more likely to have a motor speech disorder, with a trend for more frequent dysgraphia, whereas rapid progressors were more likely to exhibit surface dyslexia. Rapid and slow progressor groups did not differ on neuropsychological performance. The presence of motor speech disorder, dysgraphia, and surface dyslexia may be useful in differentiating patients with rapid progression of CBS from those with a more indolent disease course.     

Dynamic assessment of visual neglect: The Mobility Assessment Course as a diagnostic tool

Introduction: Visual neglect is a frequent disorder following stroke and is often diagnosed by neuropsychological assessment. However, paper-and-pencil tasks have low predictive value as they lack sensitivity to capture neglect in complex, dynamic situations, such as activities of daily living. Aims of the current study were to assess the feasibility of the Mobility Assessment Course (MAC), a visual search multitask, to assess neglect, and its relation with existing neglect tasks. Method: Stroke patients admitted for inpatient rehabilitation and healthy controls were tested with the MAC in different corridors. Participants had to move through a corridor, finding and reporting 24 targets attached to the walls. In addition, the shape cancellation, line bisection, and Catherine Bergego Scale (CBS) were used in order to compare the MAC with existing diagnostic tools for neglect. Results: Administering the MAC was feasible, as 112 of 113 patients completed the MAC with a median duration of 4.09 min. Depending on the corridor where the assessment took place, in 88.5–93.3% of assessments all targets were visible. The number of omissions (total and contralesional) and the asymmetry score (contralesional–ipsilesional omissions) on the MAC as well as collisions and corrections, were higher for patients with neglect than for those without neglect. Depending on the neglect task used, 4.0–18.6% of patients without neglect on neuropsychological tasks or the CBS showed neglect on the MAC. Vice versa, 17.2–29.3% of patients who showed neglect at neuropsychological assessment or the CBS did not do so on the MAC. Finally, a moderate to strong positive relation was seen between neglect at neuropsychological assessment, the CBS, and the MAC. Conclusions: The MAC is an ecological task in which both quantitative and qualitative data on neglect can be collected. In order to assess the presence of neglect and neglect severity in a dynamic way, the MAC could be administered in conjunction with neuropsychological assessment.     

The rarity of Charles Bonnet syndrome

Charles Bonnet syndrome (CBS) is characterized by complex visual hallucinations in otherwise psychologically normal people. Estimates of the prevalence of CBS in different samples vary from a small percentage (around 1%), to a relatively large percentage (about 10%). The purpose of the present study is to determine whether CBS is rare or not. One-thousand ophthalmologic and optometric outpatients at a university hospital were consecutively screened by a questionnaire to identify patients possibly experiencing visual hallucinations. The mean corrected visual acuity in the best eye was 1.1. Those who positively responded to the questionnaire were further investigated to determine whether their symptoms were consistent with CBS. As a result, the prevalence of CBS was 0.5% (5/1000). In subclass analyses, the prevalence was 3 of 372 (0.8%) in the low vision group, 2 of 346 (0.6%) in the elderly, and 1 of 120 (0.8%) in both conditions. These were not significantly different from each other or from the overall prevalence (0.5%). This low prevalence of CBS in our subjects may be due to their relatively good visual acuity because previous studies with high prevalence of CBS investigated patients with a visual acuity of less than 0.3. The prevalence of CBS may be low in patients with these particular characteristics, and this syndrome seems to be rare in even ophthalmologic and optometric patients if they do not have seriously low vision. Further studies are needed to investigate the prevalence of CBS in general population.     

Executive dysfunction and characterological changes after traumatic brain injury: two sides of the same coin?

This study examined the capacity of neuropsychological variables indicative of dysfunction in the regulation of executive abilities (e.g. noncompliance with rules) to reflect changes in character associated with disturbances in regulatory abilities (e.g. impulsivity). A close relative of 30 participants with traumatic brain injury (TBI) was administered the Current Behaviour Scale (CBS) at admission (rating premorbid character) and six months posttrauma (rating current character). The TBI group was examined neuropsychologically at six months posttrauma, along with 30 nonbrain-damaged (NBD) participants. Significant increases in CBS factors, Loss of Emotional Control and Loss of Motivation, occurred in the TBI group posttrauma. Differences between TBI and NBD groups were found for most executive variables. Those TBI participants with impairments on the neuropsychological Rule Breaking variable showed significant posttrauma increases in Loss of Emotional Control. There was also a trend for individuals with frontal lesions to make rule-breaking and perseverative errors.     

Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants

Hyperhomocysteinemia is an independent risk factor for cardiovascular disease. In search of genetic factors causing elevated levels of total homocysteine in plasma (tHcy), we investigated a cohort of consecutively identified, unrelated thrombosis patients (n = 28) having intermediate or severe hyperhomocysteinemia (30 micromol/l 100 micromol/l, respectively). The methylene-tetrahydrofolate reductase (MTHFR) 677C-->T genotype, and the complete cystathionine beta-synthase (CBS) genotype was determined in all patients. We found that the MTHFR T/T genotype was strongly correlated with intermediate hyperhomocysteinemia, being present in 73.9% of those cases (17 of 23). In three of five patients with severe hyperhomocysteinemia, compound heterozygosity for CBS mutations was detected. Among the mutations, two novel missense mutations: 1265C-->T (S422L) and 1397C-->T (S466L) were detected. The phenotype in those patients was quite mild, thromboembolism apart. This indicates that a search for CBS mutations in patients with severe hyperhomocysteinemia is important to ensure the detection of a possible CBS deficiency, thus enabling treatment. Co-existence of the MTHFR T/T genotype and the common CBS 844ins68 variant was significantly higher among patients (10.7%) as compared to controls (1.2%), indicating that this genotype combination is a thrombotic risk factor (P <0.05). In a few patients, hyperhomocysteinemia could not be explained by this genetic approach, suggesting that other genetic risk factors were implicated.     

The Philadelphia Brief Assessment of Cognition (PBAC): a validated screening measure for dementia

The Philadelphia Brief Assessment of the Cognition (PBAC) is a brief dementia-screening instrument. The PBAC assesses five cognitive domains: working memory/executive control; lexical retrieval/language; visuospatial/visuoconstructional operations; verbal/visual episodic memory; and behavior/social comportment. A revised version of the PBAC was administered to 198 participants including patients with Alzheimer's disease (AD) (n=46) and four groups of patients with frontotemporal dementia (FTD) syndromes: behavioral-variant FTD (bvFTD; n=65), semantic-variant primary progressive aphasia (PPA) (svPPA; n=22), non-fluent/agrammatic-variant PPA (nfaPPA; n=23), and corticobasal syndrome (CBS; n=42), and a group of normal controls (n=15). The total PBAC score was highly correlated with the MMSE. The criterion validity of the PBAC was assessed relative to standard neuropsychological test performance. Using standard neuropsychological test performance as a criterion, the total PBAC score accurately identified the presence and severity of dementia. Intra-class correlations between PBAC subscales and standard neuropsychological tests were highly significant. PBAC subscales demonstrated good clinical utility in distinguishing AD and FTD subtypes using receiver operating characteristic analysis and standard diagnostic performance statistics to determine optimal subscale cut scores. The PBAC is a valid tool and able to assesses differential patterns neuropsychological/behavioral impairment in a broad range of neurodegenerative conditions.     

Cerebrospinal fluid tau and phosphorylated tau protein are elevated in corticobasal syndrome

Differentiating corticobasal syndrome (CBS) from progressive supranuclear palsy (PSP) and idiopathic Parkinson's disease (PD) can be difficult. To investigate the additional value of cerebrospinal fluid (CSF) biomarkers in the diagnostic differentiation of parkinsonism, we analyzed the CSF concentrations of total protein, lactate and brain specific proteins amyloid‐β₄₂ protein, tau protein (t‐tau), and tau protein phosphorylated at Thr181 (p‐tau), in CSF samples from patients with PSP (n = 21), CBS (n = 12), and PD (n = 28). CBS patients demonstrated higher concentrations of t‐tau and p‐tau compared with PSP and PD patients. In discriminating CBS and PD, t‐tau offered the best combination of sensitivity (75%) and specificity (90.9%), followed by p‐tau (sensitivity 87.5% and specificity 75%). The p‐tau/t‐tau ratio resulted in sensitivity of 84.2% and specificity of 66.7% in discriminating PSP and CBS. In conclusion, our results suggest that CSF parameters are of additional value in the diagnostic differentiation of CBS and PD. © 2010 Movement Disorder Society     

The Philadelphia Brief Assessment of Cognition (PBAC): A Validated Screening Measure for Dementia

The Philadelphia Brief Assessment of the Cognition (PBAC) is a brief dementia-screening instrument. The PBAC assesses five cognitive domains: working memory/executive control; lexical retrieval/language; visuospatial/visuoconstructional operations; verbal/visual episodic memory; and behavior/social comportment. A revised version of the PBAC was administered to 198 participants including patients with Alzheimer's disease (AD) (n?=?46) and four groups of patients with frontotemporal dementia (FTD) syndromes: behavioral-variant FTD (bvFTD; n?=?65), semantic-variant primary progressive aphasia (PPA) (svPPA; n?=?22), non-fluent/agrammatic-variant PPA (nfaPPA; n?=?23), and corticobasal syndrome (CBS; n?=?42), and a group of normal controls (n?=?15). The total PBAC score was highly correlated with the MMSE. The criterion validity of the PBAC was assessed relative to standard neuropsychological test performance. Using standard neuropsychological test performance as a criterion, the total PBAC score accurately identified the presence and severity of dementia. Intra-class correlations between PBAC subscales and standard neuropsychological tests were highly significant. PBAC subscales demonstrated good clinical utility in distinguishing AD and FTD subtypes using receiver operating characteristic analysis and standard diagnostic performance statistics to determine optimal subscale cut scores. The PBAC is a valid tool and able to assesses differential patterns neuropsychological/behavioral impairment in a broad range of neurodegenerative conditions.     

Prognostic Value of Clot Burden Score in Acute Ischemic Stroke after Reperfusion Therapies: A Systematic Review and Meta-Analysis

Background and Aim: Clot burden score (CBS) was designed to weight the thrombus status in cerebral anterior circulation. We performed a systematic review and meta-analysis to investigate the prognostic value of CBS in acute ischemic stroke (AIS) patients undergoing reperfusion therapies. Methods: We searched relevant databases for eligible articles reporting CBS in AIS patients. The effect sizes of good functional outcome, recanalization, or hemorrhagic transformation (HT) were pooled with random-/fixed-effect models. Sensitivity analyses and heterogeneity tests were performed. Results: Fifteen eligible studies enrolling 3302 AIS patients undergoing reperfusion therapies were included. AIS patients with per 1-point increase CBS were associated with good functional outcome (pooled odds ratio [OR]: 1.15, 95% confidence interval [CI]: 1.09-1.20) and high rate of recanalization (pooled OR: 1.27, 95% CI: 1.14-1.40). Results from categorical groups indicated high CBS at baseline was associated with higher likelihood of good functional outcome (pooled OR: 1.59, 95% CI: 1.30-1.94) and superior recanalization rates (pooled OR: 2.53, 95% CI: 1.79-3.57). Further stratified analyses showed in intravenous thrombolysis (IVT) alone group, increasing CBS was associated with good functional outcome (continuous pooled OR: 1.18, 95% CI: 1.10-1.27; categorical pooled OR: 3.38, 95% CI: 2.01-5.69) or recanalization (categorical pooled OR: 4.13, 95% CI: 2.00-8.51), but not in endovascular therapy alone group. No significant association was found between CBS and HT. Conclusions: CBS could be a predictor for AIS after reperfusion therapies in functional outcome and successful recanalization particularly in patients receiving IVT alone; while CBS might not be a predictor for HT.     

Prevalence and pattern of neuropsychological impairment in human immunodeficiency virus-infected/acquired immunodeficiency syndrome (HIV/AIDS) patients across pre- and post-highly active antiretroviral therapy eras: A combined study of two cohorts

The objective of this study was to assess the prevalence and pattern of neuropsychological impairment in cohorts of human immunodeficiency virus (HIV)-infected individuals across pre- and post-HAART (highly active antiretroviral therapy) eras. Two cohorts of HIV-infected individuals attending tertiary referral hospital outpatient clinics were studied. The cohorts represented two eras of antiretroviral medication: monotherapy (n = 51) and HAART (n = 90). Each was compared in nine neuropsychological domains in regard to the prevalence as well as pattern of neuropsychological impairment. Because the authors intended to characterize the prevalence and pattern of neuropsychological deficits in nondemented advanced HIV-infected individuals, patients with a current diagnosis of acquired immunodeficiency syndrome (AIDS) dementia complex were not included. The prevalence of impairment was not significantly different across pre-HAART and HAART eras using a standard criterion to define impairment: -2 SD in two neuropsychological measures (41.1%/38.8%). Prevalence of deficits was not significantly reduced in patients with undetectable plasma viral load. The pattern of neuropsychological impairment was different across pre-HAART and HAART eras, with an improvement in attention, verbal fluency, visuoconstruction deficits, but a deterioration in learning efficiency and complex attention. This change remained even in patients with an undetectable plasma viral load, although the severity was partially diminished. Neuropsychological deficits remain common in the HAART era, essentially uninfluenced by HAART. The finding that some neuropsychological functions are improving while other are deteriorating indicates that these deficits do not reflect "burnt out" damage but rather that there is an active intracerebral process occurring, the nature of which is still to be determined.     

两种手术方法治疗低皮质微血管密度成人烟雾病患者的疗效比较

【摘要】
目的 探讨低皮质微血管密度的成人烟雾病患者行脑-硬脑膜-动脉血管融通术（encephalo-duro-arterio-synangiosis,EDAS）与联合血管重建术（combined bypass surgery,CBS）的治疗效果。
方法 采用前瞻性研究方法,选取中国人民解放军第307医院神经外科自2009年6月～2012年8月间收治的行CBS治疗的50侧例低皮质微血管密度的成人烟雾病患者（CBS组）,以2002年11月～2008年11月间行EDAS治疗的37侧例低皮质微血管密度患者作为对照组（EDAS组）。CBS组所有患者均行单侧或双侧EDAS及颞浅动脉-大脑中动脉（superficial temporal artery-middle cerebral artery,STA-MCA）分支吻合术联合手术治疗,术中根据皮质血管照片分析皮质微血管密度,根据皮质微血管密度等级确定手术方案。术前、术后6个月行经颅多普勒超声（transcranial Doppler,TCD）和数字减影血管造影（digital subtraction angiography,DSA）检查评估脑血流状况和手术血管重建情况。
结果 两组患者间在临床表现类型、术前分期方面差异无显著性。EDAS组患者手术后6个月颞浅动脉的平均流速（STA Vm）较术前比较差异具有显著性［（42.18±12.68）cm/s vs （28.34±7.28）cm/s,P=0.041］;STA的搏动指数（pulsation index,PI）较术前比较差异具有显著性［（1.62±0.62） vs （2.42±0.87）,P=0.043］。CBS组术后6个月STA Vm较术前比较差异具有显著性［（53.67±11.48）cm/s vs （26.83±8.46）cm/s,P=0.032］;STA PI较术前比较差异具有显著性［（1.24±0.58） vs （2.61±0.91）,P=0.039］。术后6个月,CBS组的STA Vm较EDAS组比较差异具有显著性［（53.67±11.48）cm/s vs （42.18±12.68）cm/s,P=0.042］,CBS组的STA PI较EDAS组比较差异具有显著性［（1.24±0.58） vs （1.62±0.62）,P=0.047］。EDAS组患者术后6个月手术血管重建评估≥Ⅱ级占37.8%,CBS组患者术后6个月手术血管重建评估≥Ⅱ级占48.0%,两组间差异具有显著性（P=0.033）。
结论 EDAS与CBS均能改善低皮质微血管密度的成人烟雾病患者的脑血流情况,均可发生手术血管重建,但CBS效果优于EDAS术,有助于患者术后脑血流的改善。     

Diagnostic value of the Rotterdam-CAMCOG in post-stroke dementia

BACKGROUND AND OBJECTIVE: Specific screening tests to detect post-stroke dementia are lacking. We recently reported that an adaptation of the Cambridge Cognitive Examination (CAMCOG), the Rotterdam-CAMCOG, had excellent sensitivity and specificity for detecting post-stroke dementia. In this study, we externally validated the diagnostic accuracy of the R-CAMCOG in a new, representative cohort of stroke patients. METHODS: The R-CAMCOG and an extensive neuropsychological examination were administered, independently of each other, in 121 patients aged 55 and over with a stroke in the preceding three to nine months. The gold standard diagnosis of dementia was based on the results of the extensive neuropsychological examination, clinical presentation, and information from a close relative, as well as DSM-IV criteria. RESULTS: Of the 121 patients, 35 had dementia (29%). The diagnostic accuracy at the pre-specified cut-off point of 33/34 was established through receiver operating characteristic (ROC) analyses (sensitivity 66%, specificity 94%). At a cut-off point of 36/37 sensitivity would be 83% and specificity 78%. CONCLUSION: The R-CAMCOG is a useful screening tool for post-stroke dementia in a clinical setting.     

Prevalence and clinical characteristics of corticobasal syndrome with an initial symptom outside of the upper limb

Although typical corticobasal syndrome (CBS) presents with asymmetric upper limb symptoms, the prevalence and clinical characteristics of patients with symptoms beginning in other sites are unknown. From January 1997 through April 2016, consecutive patients with CBS who fulfilled the modified Cambridge criteria were recruited. Their medical records were reviewed to determine the body part, where the initial symptoms developed and the clinical characteristics. A total of 24 patients [13 female participants, median age at onset: 64 (IQR 60–74) years, and median duration between onset and evaluation: 38 (17–53) months] met the criteria. The initial symptom involved the unilateral upper limb in 14 cases (58%), unilateral lower limb in five (21%), gait in four (17%), and visual field in one (4%). Over a median of 59 (IQR 40–68) months of follow-up, the duration between the onset and the time for need of assistance in walking was significantly shorter in the patients with lower limb (p = 0.018 with log-rank test) or gait (p = 0.025) onset than in those with upper limb onset. About a half of the CBS patients initially complained of symptoms other than the upper limb. The most common area of origin of the initial symptom after the upper limb was the lower limb followed by gait. Such patients need assistance in walking earlier than those with upper limb-onset CBS. Patients with lower limb- or gait-onset CBS are not rare and may have unfavorable outcome.     

Clinicopathologic subtype of Alzheimer's disease presenting as corticobasal syndrome

IntroductionThe corticobasal syndrome (CBS) is associated with several neuropathologic disorders, including corticobasal degeneration and Alzheimer's disease (AD).MethodIn this report, we studied 43 AD patients with CBS (AD-CBS) and compared them with 42 AD patients with typical amnestic syndrome (AD-AS), as well as 15 cases of corticobasal degeneration and CBS pathology.ResultsUnlike AD-AS, AD-CBS had prominent motor problems, including limb apraxia (90%), myoclonus (81%), and gait disorders (70%). Alien limb phenomenon was reported in 26% and cortical sensory loss in 14%. Language problems were also more frequent in AD-CBS, and memory impairment was less frequent. AD-CBS had more tau pathology in perirolandic cortices but less in superior temporal cortex than AD-AS. In addition, AD-CBS had greater neuronal loss in the substantia nigra.DiscussionAD-CBS is a clinicopathological subtype of AD with an atypical distribution of Alzheimer-type tau pathology. Greater neuronal loss in the substantia nigra may contribute to Parkinsonism which is not a feature of typical AD.     

9例原发性中枢神经系统血管炎临床、影像及病理特点研究

目的  总结原发性中枢神经系统血管炎临床、磁共振成像（magnetic resonance imaging,MRI）和病理学特点。 方法  收集2012年3月～2014年12月首都医科大学附属北京天坛医院神经病学中心收治的原发性中枢神经系统血管炎患者资料,采用描述性方法对其临床表现、MRI及病理学特点进行分析。 结果  共收集9例患者,其中男性5例（55.56%）,女性4例（44.44%）,年龄范围10～47岁,中位年龄30岁。痫性发作4例（44.44%）,行为认知异常3例（33.33%）,局灶性感觉运动异常5例（55.56%）,头晕2例（22.22%）,钝性头痛2例（22.22%）,面部疼痛1例（11.11%）,视物模糊1例（11.11%）,行走不稳1例（11.11%）。腰穿异常4例（44.44%）。MRI表现为双侧病灶6例（66.67%）,单侧病灶3例（33.33%）,其中受累部位分别为额叶9例（100%）,顶叶5例（55.56%）,颞枕叶4例（44.44%）,合并皮层下白质受累6例（66.67%）,合并脑膜/脊膜受累3例（33.33%）,合并基底节受累1例（11.11%）,合并脊髓受累1例（11.11%）;病变边界不清8例（88.89%）,边界清1例（11.11%）;皮层萎缩伴脑室扩大3例（33.33%）;病灶及脑脊膜强化6例（66.67%）;7例患者行磁共振T2*或磁敏感加权序列（susceptibility weighted  imaging,SWI）,其中病灶表现低信号4例（57.14%）。2例行脑病理学检查,表现为脑实质水肿,血管周围炎性细胞浸润,血管壁坏死和胶质增生。 结论  原发性中枢神经系统血管炎临床表现及影像学多样,病灶合并脑膜和（或）脊膜强化,以及磁共振T2*或SWI序列低信号是其重要影像学特征,脑活检仍是目前重要的确诊手段。     

Microheterogeneity in the distribution of the 844ins68 in the cystathionine beta-synthase gene in Italy.

Cystathionine beta-synthase (CBS) is an important enzyme for methionine metabolism. A common 844ins68 insertion variant in the CBS gene has been described. This 68-bp duplication of the intron 7-exon 8 boundary within the CBS gene already has been reported to be associated in cis with the T833C mutation. Heterozygosity for CBS deficiency is considered an important cause of hyperhomocysteinemia that strongly relates to cardiovascular disease, as well as homozygosity for another common variant, the C677T mutation of 5,10-methylene tetrahydrofolate reductase. We analysed the prevalence of the 844ins68 variant in the CBS gene in 595 unrelated apparently healthy individuals from nine Italian regions and in 133 patients with coronary artery disease. Our data confirm that the T833C mutation cosegregates in cis with the 844ins68 in all carriers of the insertion. Furthermore, no statistical difference was found in the insertion variant allele frequency between controls and coronary artery disease patients. Our study indicates a microheterogeneity in the distribution of the 844ins68 in the Italian population.     

成人贫血并发急性脑梗死的临床特点分析

目的 探讨成人贫血并发急性脑梗死的临床特点。方法 回顾性分析2014年1月～2015年12月本院神经内科收治的18例成人贫血并发急性脑梗死患者的临床资料,总结其贫血特点、脑卒中危险因素、临床表现和脑MRI特点。结果 成人贫血并发急性脑梗死患者占同期所有住院急性脑梗死患者(205例)的比例为8.78%。其中男11例,女7例,平均年龄(60.56±12.50)岁(35～87岁),平均血红蛋白浓度(74.06±14.95)g/L(52～102 g/L); 轻度贫血3例(16.66%),中度贫血12例(66.67%),重度贫血3例(16.66%); 平均血小板计数(311.33±101.48)×10⁹/L(136～455×10⁹/L); 小细胞低色素性贫血14例(77.78%)(9例确诊为缺铁性贫血),缺铁性贫血患者平均血小板计数(375±73.78)×10⁹/L(251～455×10⁹/L)。无脑卒中危险因素者6例(33.33%),脑卒中危险因素1～2项者7例(38.89%),3项以上危险因素者5例(27.78%); 5例有意识障碍(27.78%); 12例病灶累及前循环(66.67%),14例累及分水岭区(77.78%),10例累及放射冠及半卵圆中心(55.56%); 13例为多发性脑梗死(72.22%),15例为小梗死(83.33%)。18例患者均行扩容治疗,4例输注红细胞; 临床治愈及好转者12例(66.67%)。结论 成人贫血并发急性脑梗死患者多为中度贫血,缺铁性贫血占多数,多伴有继发性血小板增多; 患者多缺乏脑血管病危险因素; 病变多位于脑前循环分布区,分水岭区多见,病灶以多发性小梗死灶为主,且多累及放射冠及半卵圆中心。治疗应以扩容及纠正贫血为主。