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Study of level and structure of intelligence in children with benign epilepsy of childhood with centrotemporal spikes

Xinjie LIU ; Ruopeng SUN ; Huawei LIU ; Hui DONG

Chinese Journal of Neurology.2010;43(7):479-483. doi:10.3760/cma.j.issn.1006-7876.2010.07.006

Objective To study the level and structure of intelligence in children with benign epilepsy of childhood with centrotemporal spikes(BECT)and investigate factors affecting their intelligence.Methods Congitive skills such as intelligence quotient(IQ),phonological test and morphological test,were evaluated in 47 children with BECT,and the results were compared to a control group of 30 children matched for gender,age,level of education and family background.The effects of age of onset,disease course,seizure frequency,seizure type,location of spike,and spike and wave index(SWI)on the level and structure of intelligence were also analyzed.Results The total IQ score was slightly lower in children with BECT(104.20±12.34)when compared to the control group of normal children(109.45±15.01),but the difference was not significant.There was no difference in performance IQ scores between BECT and normal children.BECT children had a lower verbal IQ score(90.67±18.40)when compared to the control group(98.17±13.18,t=3.431.P<0.05).Analyses of verbal subtests revealed significant differences between BECT and normal children in vocabulary and similarities(5.97±2.95 vs 8.51±3.67 and 4.85±3.02 vs 6.95±3.07,respectively,t value were 2.365 and 2.096,both P<0.05).The differences between BECT and normal children were also significant in phonological test and morphological test (12.56±2.3 vs 16.78±3.72 and 22.35±3.25 vs 24.15±5.28,respectively,t=2.478 and 2.770,both P<0.05).SWI was negatively correlated with verbal IQ,vocabulary,similarities,phonological test and morphological test(r=-0.305--0.838,P<0.05).Age of onset,disease course and seizure frequency were not correlated with verbal IQ,phonological test and morphological test.The level of intelligence was not different among children with left hemispheric foci,fight hemispheric foci or bilateral foci.The level of intelligence Was similar between children with partial seizures or secondarily generalized seizures.Conclusions Children with BECT have normal level of intelligence,but the structure of intelligence is abnormal with retardation of their language ability.SWI affects the language ability in children with BECT,but age of onset,seizure type and location of spike do not influence their language ability.

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Use of laser speckle imaging to study effects of urinary kallidinogenase on cerebral blood flow following cerebral infarction in rats

Changsheng LI ; Zhe MIN ; Yanqiang ZHAN ; Jie XU ; Lianchen XIAO ; Suming ZHANG

Chinese Journal of Neurology.2010;43(10):732-736. doi:10.3760/cma.j.issn.1006-7876.2010.10.016

Objective To study the effects of urinary kallidinogenase (kallikrein) on focal cerebral blood flow (CBF) following cerebral infarction in rats by laser speckle imaging.Methods Permanent middle cerebral artery occlusion (MCAO) was induced in male Sprague-Dawley rats by the intraluminal filament technique.Laser speckle imaging was used to measure CBF in the ischemic cortical area and middle cerebral artery territory.The brain was stained with 2,3,5-triphenyltetrazolium chloride (TTC) to determine the infarct size.Neurological deficit score was measured.Results CBF increased in both hemispheric cortical area and MCA territory on the first and second days following urinary kallikrein administration at high dose but not at low dose.Larger blood vessel diameter and increased blood flow velocity were noticed in the high dose group in some arteries when compared to the low dose group and normal saline control group.At 36 h after cerebral ischemia,the brain infarct size was 10.14% ±3.02% ,25.99% ±3.90% and 27.10% ±3.32% in high, low dose and normal saline control groups,respectively.The infarct size was significantly smaller in the high ( F = 61.14, P<0.01 ) but not low dose group when compared to the normal saline control group.The neurological deficit was milder in the high dose group but not the other two groups at 4 h after cerebral ischemia; however, there were no differences among the groups at 36 h after MCAO.Conclusions Urinary kallidinogenase can reduce cerebral infarction volume and neurological deficit in rats following focal cerebral ischemia.These effects may be attributed to enhanced collateral circulation and improved CBF in the hemispheric cortical area and MCA territory.

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Clinical and pathological features of Danon disease associated with a novel lysosome-associated membrane protein-2B mutation

Daojun HONG ; Zhihong SHI ; Wei ZHANG ; Zhaoxia WANG ; Yun YUAN

Chinese Journal of Neurology.2010;43(10):707-711. doi:10.3760/cma.j.issn.1006-7876.2010.10.009

Objectives To report the clinical and myopathological features in a case with Danon disease caused by a novel mutation in the lysosome-associated membrane protein-2 ( LAMP2 ) B gene.Methods A 16-year-old boy presenting progressive muscle weakness and atrophy, accompanied with spinal ankylosis was clinically evaluated including electrocardiogram, echocardiogram and electromyogram.Muscle biopsy was carried out in the patient.The histological staining, ultrastructural examination, and immunohistochemical staining with antibodies against dystrophin, merosin and C5b9 were performed in frozen sections.LAMP2B sequence was analyzed in the patient and his parents.Results Electrocardiogram in the patient showed Ⅰ atrioventricular block; echocardiogram revealed focal hypertrophy in mitral valve with mild cardiac diastolic dysfunction; electromyogram indicated myogenic and neurogenic patterns.Muscle pathology study revealed numerous vacuoles located at the fibers.Dystrophin, merosin and C5b9 was immuno-positive around the vacuoles.Electron microscopy revealed vacuoles surrounded by sarcolemma and abnormal lysosome aggregating at the fibers.A novel nonsense mutation ( K402X ) in the LAMP2B gene has been identified in the patient but not in his mother and 50 normal controls.Conclusions Danon disease caused by K402X mutation in C-terminus of LAMP2B presented benign course of the disease characterized by prominent vacuolar skeletal myopathy, mild cardiac abnormalities and peripheral neuropathy.

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The influence of NF-κB protein expression in the periaqueductal gray matter induced by sumatriptan in migraine animal model

Rongfei WANG ; Shengyuan YU

Chinese Journal of Neurology.2010;43(10):725-728. doi:10.3760/cma.j.issn.1006-7876.2010.10.013

Objectiye To investigate the possible mechanism of sumatriptan in treating migraine.Methods Migraine model rat was electrically stimulated at cerebral dura mater in superior sagittal sinus (SSS) to induce migraine.Each of 10 male SD rats were randomly selected into groups of normal control (no intervention), pseudo-stimulation group ( no electrical stimulation), stimulation group ( no treatment after stimulation), saline group (treated with saline after migraine stimulation ) and sumatriptan group ( treated with sumatriptan after migraine stimulation).The neurons expressing NF-κB in periaqueductal gray matter (PAG) were evaluated in each group by immnunostaining.Results The numbers of NF-κB immunoreactive positive neurons were 179.5 ± 14.9 in sumatriptan group, 497.8 ± 20.6 in saline group,508.7 ± 30.8 in stimulation group, 112.9 ± 10.7 in pseudo-stimulation group and 111.7 ± 15.7 in normal group.The stimulation group was higher than normal group, pseudo-stimulation group and sumatriptan group (F=944.78, P <0.05).Conclusions The NF-κB positive neurons were activated in the PAG by electric stimulation of the dura mater near the SSS.Sumatriptan can reduce the expression of NF-κB protein.

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Functional magnetic resonance imaging study of working memory changes in healthy male volunteers after 36 hours sleep deprivation

Mingxia ZHAO ; Zhongxin ZHAO ; Hua PENG ; Huijuan WU ; Lin ZHANG ; Liuqing HUANG ; Bin HE ; Jianhua ZHUANG

Chinese Journal of Neurology.2010;43(10):716-720. doi:10.3760/cma.j.issn.1006-7876.2010.10.011

Objective To observe changes in the working memory and brain functional imaging on functional magnetic resonance imaging(fMRI) after 36 hours sleep deprivation (SD) in healthy volunteers and to explore the possible mechanism of the changes.Methods FMRI scannings were performed in ten male healthy young volunteers before and after 36 hours SD and results were analyzed using SPM2 software.Subjects were also tested LTR and PLUS task to measure the persistence and operation of working memory before and after 36 hours SD.Results The reaction time of LTR task after 36 hours SD ( (866 ± 102) ms)was significantly longer than that before SD ( (754 ± 91 ) ms, t = 2.59, P < 0.01 ).The reaction time of PLUS task after SD ( (848 ± 94) ms) was significantly longer ( t = 2.37, P < 0.05 ) than that before SD ( (756 ± 79) ms).The error rate of LTR task after SD (95.3% ± 3.56% ) was significantly higher (t=3.52,P < 0.01 ) than that before SD (84.8% ± 8.71% ).The error rate of PLUS task after SD (95.7% ±4.72% ) was significantly higher (t =3.38 ,P <0.01 ) than that before SD (84.2% ±9.66% ).There were no significant differences between the two tasks.The frontal and parietal lobes, anterior cingulate gyrus and thalamus were activated during memory tasks testing before SD.Brain activation was broader and stronger in PLUS task than in LTR task.After SD, activation in parietal lobe was decreased and activation in prefrontal and thalamus was increased significantly.Conclusions The working memory performance decreased after SD.Both LTR and PLUS tasks of working memory activate frontal and parietal lobes, anterior cingulate gyrus and thalamus.The activation of parietal lobe decreased and the activation of prefrontal lobe and thalamus increased after 36 hours SD.This is the possible mechanism of SD to causes the cognition decline.

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Analysis of parkin gene mutations in Han Chinese with sporadic early-onset parkinsonism in southern China

Liluo NIE ; Jifeng GUO ; Hainan ZHANG ; Xuewei ZHANG ; Lei WANG ; Linzi LUO ; Lu SHEN ; Hong JIANG ; Kun XIA ; Beisha TANG ; Xinxiang YAN

Chinese Journal of Neurology.2010;43(10):692-696. doi:10.3760/cma.j.issn.1006-7876.2010.10.005

Objective To investigate the spectrum and features of parkin gene mutations in Chinese patients with sporadic early-onset Parkinsonism (EOP) in southern China.Methods All 156 Han Chinese patients with sporadic EOP were screened for mutations in parkin gene using SYBR Green Ⅰ Real-time PGR combined with sequencing of the entire coding region of the gene.Results Nineteen cases carried parkin mutations, including 2 homozygous, 2 compound heterozygous and 15 heterozygous mutations.Seventeen parkin gene rearrangement mutations ( 12 exon deletions and 5 exon duplications) and three small sequence mutations (ⅣS9 + 18C ＞ T,c.202-203delAG and c.813delT) were identified.The c.813delT is a novel mutation.The segment between exon 1 and 7 are mutational hot spot.Cases with parkin mutations showed no difference in initial symptoms, cardinal symptoms and disease severity, compared with cases without parkin mutations.But patients with parkin mutations showed significant earlier onset age ( ( 40.9 ± 6.8 ) years vs (35.5 ± 10.0) years, Z = -2.271, P ＜0.05) and longer disease duration ( (4.4 ±3.6) years vs (7.6 ±4.0) years,Z = - 3.680, P ＜ 0.05 ) than those without parkin mutation.Conclusions The frequency of parkin gene mutation was 12.18% in Han Chinese patients with sporadic EOP.Rearrangement mutation may be the predominant type of mutations.The exon deletion is a main mutation style.The sequence fragment between exon 1 and 7 of the parkin gene are mutational hot spots.There were no significant differences in clinical features between cases with parkin mutation and those without.However, our patient with parkin mutations showed a significantly earlier onset age, longer disease duration and slower progression than those without parkin mutation.

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Screening of mutations in superoxide dismutase 1 gene in Chinese with familiar amyotrophic lateral sclerosis

Xiaoguang LI ; Lihong ZHANG ; Manqing XIE ; Mingsheng LIU ; Benhong LI ; Yanhuan ZHAO ; Liying CUI

Chinese Journal of Neurology.2010;43(10):686-691. doi:10.3760/cma.j.issn.1006-7876.2010.10.004

Objective To identify the mutations in Cu/Zn superoxide dismutase ( SOD1 ) gene in three Chinese kindreds with amyotrophic lateral sclerosis ( ALS), compare the genotypes with those found in other ethnic groups and to analyze the clinical characteristics.Methods The diagnosis of ALS met El Escorial ALS diagnostic criteria.Genomic DNA was extracted from peripheral blood in ALS patients using standard procedure.PCR amplifications of five exons of SOD1 were performed using primers as described in the previous publication.The PCR products were directly sequenced.Results A heterozygous mutation H46R was found in four affected members in a family with middle age onset and slowly progressive ALS.A heterozygous mutation of G72C was identified in a 20-year-old male who died of respiratory failure after two years of ALS.His father carried the same mutation without clinical phenotype.In the third family with 20affected members with middle age onset and rapidly progress, a mutation of E13V was identified in 5 affected subjects.Conclusions This study is the first large screening of SOD1 mutation in Chinese familiar ALS patients.H46R has previously been found only in Japanese and Pakistanis; this is the first report in Chinese, suggesting H46R may be specific to Asians.The family with mutation G72C presented decreased penetrance, therefore screening SOD1 mutation in sporadic cases and unaffected family members is necessary.E133V is the first reported mutation and needs more study to investigate its effect on the disease.

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Analyses of clinical and genetic characteristics of 179 patients with hereditary spastic paraplegia

Yinguang WANG ; Lu SHEN ; Juan DU ; Chong CHEN ; Zhifan ZHOU ; Zhiquan XIAO ; Yingying LUO ; Junling WANG ; Xinxiang YAN ; Beisha TANG

Chinese Journal of Neurology.2010;43(10):681-685. doi:10.3760/cma.j.issn.1006-7876.2010.10.003

Objective To investigate clinical and genetic characteristics of Chinese patients with hereditary spastic paraplegia (HSP).Methods To perform retrospective analyses of clinical data from 179 HSP Han Chinese patients from Xiangya Hospital and National Laboratory of Medical Genetics of China.Results The 179 patients comprised of 114 familial cases (from 41 families with AD inheritance and 37 families with AR inheritance ) and 65 sporadic cases.Genetic anticipation was not found, and nonpenetrance was observed in some HSP families.Male to female ratio was 1.84 to 1.The mean age of onset was ( 18.1 ± 14.0) years, and the mcan duration of disease was ( 12.3 ± 11.5) years.AD-HSP patients had an older age of onset ( ( 19.7 ± 14.0) years) and a longer duration ( ( 17.9 ± 14.4) years) than ARHSP patients (t =2.196 and 4.404, P value were less than 0.05 and 0.01 respectively).Most AD patients manifested as "pure" form, while "complicated" form occurred more frequently in AR patients (F =19.322, P ＜ 0.01 ).Leg stiffness and clumsiness were often the early symptoms at the beginning of the disease, and the most common leg signs were hypertonia, hyperreflexia and pathological reflexes.Other signs included ankle clonus (46.9% ), weakness (42.5% ) and deformities (30.7% ).Ataxia, dysarthria,mental retardation, and foot deformity were more frequently seen in AR-HSP patients than AD-HSP patients,but the frequency of urinary symptoms was higher in AD-HSP patients.Among 65 patients with MRI examination of the head, 13 cases and 9 cases showed corpus callosal dysplasia and cerebellar atrophy,respectively.In addition, spinal cord atrophy was found in 7 of 45 patients undergone MRI examination of the spine.Conclusions Adolescent onset of HSP is common, and more males than females are affected.When compared with AR-HSP, AD-HSP patients have an older age of onset, a longer duration, and more marked urinary symptoms.Most AD-HSP cases are of "pure" form, while most AR-HSP cases manifest as "complicated" form with ataxia, dysarthria, and mental retardation.Dysplasia of corpus callosum is commonly seen in AR-HSP individuals than AD-HSP.HSP manifest gender-related clinical heterogeneity,illustrating the phenomenon of "female protection".

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Comparison of the clinical and magnetic resonance imaging characteristics of cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy in mainland China and other countries

Yun WANG ; Daojun HONG ; Danhua ZHAO ; Wei ZHANG ; Zhaoxia WANG ; Yun YUAN

Chinese Journal of Neurology.2010;43(10):697-701. doi:10.3760/cma.j.issn.1006-7876.2010.10.006

Objectives To analyse the clinical and MRI features of cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy (CADASIL) in mainland China and compare these features with those reported in other countries.Methods All 26 CADASIL families were collected in First Hospital of Peking University from January 2003 to October 2009, and the diagnosis was confirmed by ultrastructural examination or Notch3 gene analysis.The age of onset, initial symptoms, main symptoms in 102 patients were described and the features with those reported in Germany, Japan, Arab and France were compared using x2 test.The cranial MRI changes in 35 patients were analysed and compared with the British and French patients.Results 102 patients had their initial symptoms between 22-80 years with the mean age of onset at (43.9 ± 11.0) years.There was no significant difference in the frequency of ischemic stroke or TIA (79.41% ) between our patients and the patients in other countries.Dementia rate (50.00% ) was significantly greater than that of Arab (21.05% ,x2 =5.513, P =0.020) and French patients(31.11%,x2 =4.517, P =0.034).The frequency of mood disturbances ( 14.71% ) was significantly lower than that of German patients (30.39% ,x2 =7.185, P =0.007).The frequency of migraine ( 13.73% ) was similar to that of France but lower than that of Japan (40%, x2 = 12.658, P = 0.000), Germany (38.24%, x2 =15.932, P=0.000) and Arab (42.11% ,x2 =6.869, P=0.009).Cranial MRIs were abnormal in all 35patients, but no lesion was seen in the medulla oblongata.Lacunar infarcts in the basal ganglia (82.86% )were significantly more frequent than that of French patients (60% , x2 = 5.663, P = 0.017).The frequency of leukoaraiosis in the cerebrum was similar to that of French patients.Anterior temporal involvement (68.57%) was significantly lower than of British patients ( 95%, x2 = 5.211, P = 0.022 ).Conclusion The clinical symptoms and MRI changes of CADASIL in different countries were not identical.Abnormal anterior temporal pole signal on MRI is not a sensitive marker for diagnosis of CADASIL in Chinese patients.

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Characteristics of verbal working memory in elderly patients with amnestic mild cognitive impairment

Guang YANG ; Haibo CHEN ; Shuhua LI

Chinese Journal of Neurology.2010;43(10):721-724. doi:10.3760/cma.j.issn.1006-7876.2010.10.012

Objective To explore the features of verbal working memory in elderly patients with anmestic mild cognitive impairment (aMCI).Methods Thirty patients with aMCI and 30 normal controls (NC), whose age were over 65 years old, were examined with verbal working memory software and the other neuropsychological tests, such as verbal fluency test (VFT) and digit span test.Results The correct rate of visual semantic verbal working memory test was significantly lower in aMCI patients (79.83% ± 3.22% )than in NC ( 87.00% ±: 1.93 % , t = - 1.03, P = 0.002).There was no significant difference of correct rate of the visual phonological verbal working memory test between the aMCI (78.92% ± 8.60% ) and NC (86.80% ±2.14%, t = - 2.34, P = 0.060).Also, aMCI cases achieved significantly lower scores than NC on VFT (22.96 ±2.31 vs 31.53 ±3.72, t = - 1.08, P =0.004) and BDS ( 1.53 ±0.86 vs 3.63 ±0.56, t = - 1.23, P = 0.027).Conclusion The visual semantic verbal working memory is impaired and visual phonetic working memory is saved in aMCI patients.Both scores of verbal fluency test and digit span test are significantly decreased in aMCI patients, too.

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