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Clinical and pathological features of 12 cases with nemaline myopathy

Xi YIN ; Chuanqiang PU ; Xusheng HUANG ; Yanling MAO ; Jiexiao LIU ; Qian WANG

Chinese Journal of Neurology.2013;46(10):676-680. doi:10.3760/cma.j.issn.1006-7876.2013.10.008

Objective To study the clinical and pathological features of nemaline myopathy(NM) in 12 cases.Methods Clinical manifestations and pathological features of muscle-biopsy specimens were summarized and analyzed retrospectively in 12 NM cases.Results In 12 cases,7 patients with typical congenital type exhibited lower or four limbs weakness as the first symptom and benign course.Three patients with childhood onset type exhibited lower limbs weakness and progressive course,and this type of patient might have muscle atrophy.Two patients with adult onset type exhibited four limbs and throat muscle weakness,rapidly progressive course and obvious muscle atrophy,and one patient had already shown acute respiratory failure.High arched feet and elongated face were observed.Creatin kinase value in all patients was normal or mildly elevated,and all electromyography showed myogenic changes.In light microscopy,the nemaline bodies were observed in more than half muscle fibers,especially in type 1 fibers.All patients showed type 1 predominance and atrophy.Modified Gomori trichrome stains showed characteristic purplecolored rods.Muscle electron microscopy showed high electron dense nemaline bodies around nucleus and disorganized myofibrillar apparatus such as broken myofilaments,irregular myofibril and Z lines.Nemaline bodies under electron microscopy may be part of myofibril or high electron-dense bodies with no structure.Conclusions The 12 patients in this study with NM are divided into 3 types,of which adult onset type is the most severe one.The key diagnosis is based on the appearance of nemaline bodies in more than half of the muscle fibers and the muscle electron microscopy observation.

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Complexity analysis of electroencephalogram in patients with Alzheimer's disease and mild cognitive impairment

Meisong XU ; Huaying TAO

Chinese Journal of Neurology.2013;46(10):687-691. doi:10.3760/cma.j.issn.1006-7876.2013.10.010

Objective To investigate the Lemple-Zie complexity (LZC) characteristics in patients with Alzheimer' s disease(AD),mild cognitive impairment(MCI) and normal elderly,and the possibility of differentiating AD,MCI and normal elderly by LZC.Methods Electroencephalogram (EEG) of 30 AD patients,30 MCI patients and 20 normal elderly with eyes closed in rest state were recorded.In acquired EEG data,2048 points(10.14 s)of each channel were selected for LZC calculation by Matlab 7.0 software.Results (1) The average LZC values in AD,MCI and control groups were 0.396 ± 0.036,0.470 ±0.051,0.523 ±0.055 respectively.As compared with control group,the values in AD and MCI groups were decreased (F =43.092,P =0.000).(2) LZC values of AD in all channels (from 0.373 ± 0.042 to 0.430 ±0.083),whole brain,bilateral hemispheres,frontal and temporal areas were significantly lower than those in the normal group (from 0.498 ± 0.067 to 0.566 ± 0.059 ; t =3.602-8.747,P =0.000-0.010),and showed the significant decline(＞ 23％)in bilateral anterior middle temporal,frontal areas,the left parietal area.(3) Except the T6 channel,LZC values of AD groups in the remaining channels(from 0.373 ±0.042 to 0.418±0.063),the whole brain,bilateral hemispheres,frontal and temporal areas were significantly lower than those in the MCI group(from 0.455 ± 0.072 to 0.489 ± 0.063 ; in T5 channel,t =2.038,P =0.041,the others t=4.178-7.424,all P=0.000).(4) LZC values of MCI groups in the whole brain,bilateral hemispheres,temporal areas,parietal areas,the left frontal area were notably lower than those in the control group.Conclusions With the decline of the cognitive function,the EEG complexity value shows the parallel change.It suggests that the EEG complexity value can reflect the change of brain function in the duration from normal age to dementia in some degree; The MCI patients with abnormal LZC values in temporal and frontal lobes have a certain degree relation with the occurrence of AD.

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Association between mild cognitive impairment and hypersensitive C reactive protein, interleukin-1β and interleukin-6 in Xinjiang region, China

Xiaolan ZHONG ; Zhanying ZHANG ; Haijun MIAO ; Ting ZOU ; Xiaohui ZHOU

Chinese Journal of Neurology.2013;46(11):763-768. doi:10.3760/cma.j.issn.1006-7876.2013.11.011

Objective To explore the association between mild cognitive impairment (MCI) and hypersensitive C reactive protein (hs-CRP),interleukin-1β (IL-1β) and interleukin-6 (IL-6) among Uygurs and Hans in Xinjiang region,China.Methods From July 2008 to October 2010,the epidemiological investigation was performed in Southern,Eastern and Northern of Xinjiang.Based on the diagnostic standard of United States psychiatric society of spirit obstacles diagnosis and statistics manual Ⅳ amendment version in the mild cognitive function,483 MCI patients were diagnosed.Finally,314 MCI patients were selected from above according to the completion of data.Moreover,299 subjects were randomly selected as the control group from the investigation.General information and fasting plasma were collected,and blood glucose,blood lipid and biochemical indexes,serum hs-CRP,IL-1β,IL-6 of concentration were tested.The association between MCI and hs-CRP,IL-1β and IL-6 were analyzed with SPSS 17.0 software.Results (1) The concentrations of serum hs-CRP,IL-1β and IL-6 in MCI group (3.40 (6.53) mg/L,0.09 (0.09) ng/L,136.08(96.77) pg/L) were significantly higher than that in control group (2.99 (3.91) mg/L,0.07(0.06) ng/L,79.32(68.79) pg/L) respectively (Z =-2.525,-2.946,-9.361,all P ＜0.05).(2)The concentrations of serum hs-CRP,IL-1β,IL-6 in Han MCI patients were significantly higher than that in Han non-MCI subject; The concentrations of serum IL-1β,IL-6 in Uygur MCI patients were significantly higher than that in Uygur non-MCI subjects; However,the hs-CRP concentration between MCI and non-MCI group is not statistically different among Uygurs.(3)Non-conditional Logistic regression analysis showed that serum IL-1β(OR =1.008,95％ CI0.897-1.071,P =0.006),hs-CRP (OR =1.096,95％ CI1.056-1.137,P =0.000),IL-6 (OR =1.011,95％ CI1.008-1.014,P =0.000) were associated with MCI.Conclusion The hs-CRP,IL-1β and IL-6 were independent risk factors for MCI.

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Mutation analysis of DJ-1 in patients with early-onset Parkinson's disease and relationship between the g.168_185del polymorphism and Parkinson's disease

Miao CAI ; Xinzhen YIN ; Zhiyuan OUYANG ; Baorong ZHANG

Chinese Journal of Neurology.2013;46(10):655-658. doi:10.3760/cma.j.issn.1006-7876.2013.10.003

Objective To evaluate the prevalence of the DJ-1 mutation in early-onset Parkinson's disease (EOPD) patients,and analyzed the association between the certain polymorphic marker g.168_185del in intron1 and Parkinson' s disease (PD).Methods We screened all 7 exons and exon-intron boundary regions of DJ-1 by PCR and direct nucleotide sequencing in 90 Chinese patients with EOPD.We also compared the allele and genotype frequencies of the g.168_185del polymorphism between EOPD patients and controls.Results We found no causative DJ-1 mutations in our cohort of Chinese EOPD patients.But we did identified 4 known polymorphic variants,including the g.168_185del in intron 1,g.5027G ＞ A (rs17523802),g.5065T ＞ C (rs226249),and g.5094C ＞ T (rs11121064) within exon 1.Del/Ins frequencies of the g.168_185 del polymorphism were 11.1％ (10/90)and 13.3％ (14/105) in EOPD group and normal group,respectively.Ins/Ins frequencies were 88.9％ (80/90) and 86.7％ (91/105),thex2 and P value of genotype frequency were 0.222 and 0.669 between EOPD patients and controls,respectively.The insert frequencies were 94.4％ (170/180)and 93.3％ (196/210) in EOPD patients and controls,the deletion frequencies were 5.6％ (10/180) and 6.7％ (14/210),thex2 and P value of allele frequency were 0.207 and 0.679 between EOPD patients and normal,respectively.Furthermore,the P value of genotype and allele frequencies were 0.736 and 0.744 between familial EOPD patients and controls,respectively;P values of genotype and allele frequencies were 0.847 and 0.852 between sporadic EOPD patients and control group,respectively.There was no statistical difference between groups.Conclusion Mutations in DJ-1 are uncommon in Chinese EOPD patients,and no association is observed between the DJ-1 intron 1 g.168_185del polymorphism and risk of PD.

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The clinical and genetical characteristic of one dentatorubral-pallidoluysian atrophy pedigree with an onset of cognitive impairment

Juanjuan CHEN ; Zhenxing ZENG ; Jun WU ; Xiaoxin TONG ; Li YI

Chinese Journal of Neurology.2013;46(10):692-696. doi:10.3760/cma.j.issn.1006-7876.2013.10.011

Objective To report the clinical and genetic characteristics of a dentatorubralpallidoluysian atrophy (DRPLA) pedigree with an onset of cognitive impairment.Methods Clinical data of this pedigree was collected.The numbers of CAG repeats in the exon 5 of atrophin-1 (ATN1) gene were analysed in the proband and the other 4 healthy family individuals.The polymerase chain reaction (PCR) products of the proband underwent cloning-sequencing using an original TA cloning kit.Results There were 5 patients in this family,4 with onset in adult and one in childhood.The proband had an onset manifestation of cognitive impairment,while the other 3 adult patients presented with ataxia.The two-year-old child in the pedigree had myoclonic epilepsy.The proband had 61 CAG repeats in the exon 5 of ATN1 gene.After TA cloning-sequencing of the proband ' s PCR products,there were 2 different numbers of CAG repeats,including 61 and 64.Conclusions The clinical manifestations of DRPLA can have obvious heterogeneity in one family.Some patients present with cognitive impairment.It is very important to test the numbers of CAG repeats of ATN1 gen for DRPLA diagnosis.Somatic mosaicism may be also observed in Chinese DRPLA patients.

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The relationship between frizzled 6 gene polymorphisms and neural tube defects in children of northern Han Chinese population

Chunquan CAI ; Ouyan SHI ; Yongming SHEN ; Xiao MA

Chinese Journal of Neurology.2013;46(10):697-701. doi:10.3760/cma.j.issn.1006-7876.2013.10.012

Objective To study the association of single nucleotide polymorphisms (SNPs) of the frizzled 6(FZD6) gene with neural tube defects(NTDs) in a northern Han Chinese population.Methods Three nonsynonymous SNPs in the FZD6 gene (rs827528,rs3808553,rs12549394) were examined.The SNPs were genotyped by polymerase chain reaction (PCR) and sequencing in 135 NTD patients and matched normal controls.The allele,genotype and haplotype frequencies were calculated and analyzed to examine the association between FZD6 SNPs and NTDs.Results Both T allele and TT genotype frequencies of the rs3808553 polymorphism in the NTDs group were significantly higher than those in the controls,and children with T allele and TT genotype were associated with increased risk of NTDs (OR =1.575,95％ CI 1.112-2.230,P =0.010 and OR =2.811,95％ CI 1.325-5.967,P =0.023 respectively).There were no significant differences among different genotypes or alleles in both rs827528 and rs12549394.Haplotypes AG-C and A-T-C were found associated with NTDs in the case-control study (OR =0.560,95％ CI 0.378-0.830,P=0.004 and OR=1.670,95％CI 1.126-2.475,P =0.011 respectively).Conclusions The rs3808553 polymorphism of FZD6 is obviously associated with NTDs in children of northern Han Chinese population.The TT genotype may increase the risk for NTDs.The rs827528 and rs12549394 polymorphisms of FZD6 may have no association with NTDs.

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Decreased expression of γ-aminobutyric acid receptor in the hippocampal tissues of pharmacoresistant temporal lobe epileptic rats

Guofeng WU ; Jing SHI ; Zhen HONG ; Feng ZHOU

Chinese Journal of Neurology.2013;46(10):702-705. doi:10.3760/cma.j.issn.1006-7876.2013.10.013

Objective To establish a multi-drug resistant model of temporal lobe epilepsy,and to observe the changes of γ-aminobutyric acid (GABA) receptor expression in the hippocampal tissues so as to explore its effects in pharmacoresistant epileptogenesis.Methods One hundred rats were selected to prepare the amygdaloid kindled model of epilepsy by chronic stimulation of amygaloid basal lateral nucleus.After the kindled model of epilepsy was prepared successfully(n =52),pharmacoresistant epileptic rats were selected according to their response to the phenobabital and phenytoin.The selected pharmacoresistant epileptic rats (n =8)were sacrificed and the hippocampus was removed to determine the GABA receptor expression,and the same number of pharmacosensitive epileptic rats was used as control.Results The pharmacoresistant epileptic rats displayed degenerative and necrotic hippocampal neurons.The arrangement of hippocampal neurons was disordered,and the structural characteristics of the arrangement of the hippocampal neurons disappeared.The gray values of GABAA-positive neurons in the hippocampal tissues (141.15 ± 14.72) increased significantly compared with the pharmacosensitive epileptic rats (92.56 ± 5.17; t =3.380,P =0.006).Western blot method demonstrated that the band of GABAA became narrowed and thin.The relative quantity of GABAA in the hippocampal tissues (0.38 ± 0.08) decreased significantly as compared with the pharmacosensitive epileptic rats (0.88 ± 0.18).A significant difference was observed (t =5.420,P =0.002).Conclusions GABA receptor expression might be decreased in the hippocampal tissues of pharmacoresistant epileptic rats.It might play a certain role in the formation of pharnmacoresistant epilepsy.

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Clinical and radiological analysis of two cases with bilateral medial medullary infarction

Xiuli ZHANG ; Meijiao ZHANG ; Jianxia DIAO ; Xiaotian TAN ; Jianfeng WANG

Chinese Journal of Neurology.2013;46(11):748-750. doi:10.3760/cma.j.issn.1006-7876.2013.11.007

Objective To study the clinical manifestations,etiology,magnetic resonance imaging features,prognosis of patients with bilateral medial medullary infarction.Methods The clinical information of two case reports were summarized with review of the literature.Results The 2 patients with bilateral medial medullary infarction reported here were manifested with progressive quadriplegia,both complicated with respiratory disorders.On etiology,both were due to atherosclerosis,and one was combined with congenital vascular variation.The Y shaped hyperintense signals were seen in diffusion weighted imaging (DWI) cross-section in the medulla oblongata level.And both had poor outcomes that one was dead and the other was discharged with tracheotomy and severe sequela.Conclusions Bilateral medial medullary infarction is presented with complicated symptoms such as quadriplegia,dysarthria,hypoglossoplegia,even respiratory failure,in which quadriplegia is most often seen,and it is associated with a poor clinical prognosis.DWI appears the characteristic Y Shaped sign.

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The mechanism of miR-181c induced neuroprotection by hypoxia preconditioning in rats

Xiaofang HU ; Shizheng WU ; Shukun ZHANG ; Zhenzhong BAI

Chinese Journal of Neurology.2013;46(11):751-754. doi:10.3760/cma.j.issn.1006-7876.2013.11.008

Objective To investigate the neuroprotective effect of miR-181c on hypoxia-preconditioned ischemia in rats and its mechanism.Methods Thirty-nine male SD rats were randomly divided into 5 groups of control group,sham-operated group,middle cerebral artery occlusion (MCAO)group,hypoxia-preconditioned group,hypoxia-preconditioned and MCAO group.Infarct volume and behavioral deficits were quantified.Real-time PCR was applied to detect the expression levels of miR-181c and Western blotting was used to verify the target protein of mt-cox1.Results Under the treatment of hypoxia-preconditioned,the neurological impairment was alleviated and the infarct volume was reduced significantly from 22.50％ ±2.96％ to 16.40％ ±3.13 ％ (t =5.26,P ＜0.01).The expression of miR-181c was decreased significantly in hypoxia-preconditioned and MCAO group than that in MCAO group (1.89 ± 0.14 vs 3.05 ± 0.26,t =6.10,P ＜ 0.01),and the expression of mt-cox1 protein was also significantly decreased (0.54 ± 0.07 vs 0.93 ± 0.04,t =8.01,P ＜ 0.01).Conclusion Hypoxia-preconditioned may attenuate the ischemic injury in SD rats,which may be related to the down-regulation of the expression of miR-181c,therefore increasing the expression of its targeted protein mt-cox1.

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The neuroprotective effect of adiponectin on rats with cerebral ischemic-reperfusion injury

Qin LI ; Yumin LIU ; Shaoxia ZHOU

Chinese Journal of Neurology.2013;46(11):755-759. doi:10.3760/cma.j.issn.1006-7876.2013.11.009

Objective To investigate the neuroprotective effect of adiponectin on rats with cerebral ischemic-reperfusion injury and explore its possible mechanism.Methods Sixty-four SD rats were divided into normal group (C) and diabetic group (D) randomly.Type 2 diabetic rats model were made by high-fat diet before the middle cerebral artery occulation model (MCAO) surgery.Each group was divided into two subgroups.CAPNand DAPN groups were given exogenous recombinant globular adiponectin via jugular vein one hour after ischemic-reperfusion injury,C0 and D0 groups were given the same amount of normal saline at the same time.Body weight and blood glucose of the rats were measured before ischemia.We also evaluated the neurological function of rats 24 h after treatment according to Longa criteria and observed the morphological changes of cells in brain area via HE staining.The vascular density in ischemic-reperfusion injury area was detected through 3D confocal image system 2 weeks after the treatment.Results The body weight of diabetic rats was significantly lower than normal rats((284.06 ± 19.85)vs (220.31 ±21.87) g,t =8.634,P =0.000).Blood glucose of diabetic rats before ischemia was significantly higher than normal rats ((4.36±0.13)vs(22.92 ± 1.58) mmol/L,t =11.74,P =0.000).Compared with C0 group,the neurological function score of CAPN group was lower(2.29 ± 0.69 vs 17.0 ± 0.69,t =2.186,P =0.038).Compared with D0 group,the neurological function score of DAPN group was lower(2.89 ± 0.33 vs 2.40 ±0.51,t =2.567,P =0.018),too.HE staining showed that the neuronal injury were milder in CAPN,DAPN group,compared with C0,D0 group,respectively.Adiponectin increased the vascular density of ischemic cortex inC group ((2014.58±61.18)/0.002 mm2 vs(3211.95 ±71.64)/0.002 mm2,t =12.16,P=0.023) and D group ((502.86 ± 30.43)/0.002 mm2 vs (1426.69 ± 97.24)/0.002 mm2,t =25.64,P =0.001).Adiponectin increased the vascular density of ischemic striatum in C group (472.59 ± 4.78)/0.002mm2 vs (736.60 ±104.90) /0.002 mm2,t=7.11,P=0.007) and D group (432.04 ±4.65)/0.002 mm2 vs (1780.75 ± 74.54)/0.002 mm2,t =51.08,P =0.000).Conclusions Adiponectin exerts the neuroprotective effect on cerebral ischemic-reperfusion injury in normal and diabetic rats.And it may protect the brain through promoting angiogenesis.

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