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Identification of a rare amyloid precursor protein gene mutation in a Chinese family with early-onset familial Alzheimer's disease

Shanji NAN ; Yanqiu HAN ; Jia FAN ; Qiuhui CHEN

Chinese Journal of Neurology.2011;44(1):47-51. doi:10.3760/cma.j.issn.1006-7876.2011.01.013

Objective To analyze the phenotype and genatics in a Chinese family with early-onset familial Alzheimer's disease(EOFAD). Methods Peripheral blood were collected in available members in the family and genomic DNA was extracted. PCR-sequencing of exon 16 and exon 17 of the amyloid precursor protein(APP) gene, presenilin 1 (PSEN1), and presenilin 2 (PSEN2) was performed. Results At age 40, two EOFAD patients (siblings) in the family developed an insidious onset of difficulties in memory. One ( Ⅱ3 in the pedigree) showed blinking. The other ( Ⅱ 5 ) showed irritability and bradykinesia.Progressive diffuse coritcal atrophy in bilateral temporal cortex was observed. Moderate diffuse cerebral dysfunction was observed in Ⅱ3 by the electroencephalogram study and neuropsychological assessments.Sequencing revealed that both patients were heterozygous for a mutation c. 2343 G ＞ A in exon 17 of APP,causing the amino acid substitution Val715Met. Four members ( Ⅱ1, Ⅱ 3, Ⅱ 5 and Ⅲ1 ) were homozygous for ApoE ε4 allele. Ⅱ9 was ε2/ε4. Conclusions This study identified a mutation, Val715Met in the APP gene in Chinese patients with EOFAD. We suggest screening for APP gene mutations in Chinese patients with EOFAD.

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Study of relationship between scattered or single lesion on diffusion-weighted imaging and arterial stenosis in acute cerebral infarction

Wenke WANG ; Yan YIN

Chinese Journal of Neurology.2011;44(1):43-46. doi:10.3760/cma.j.issn.1006-7876.2011.01.012

Objective To investigate the relationship between scattered or single lesion of acute cerebral infarction in middle cerebral artery territory on diffusion-weighted imaging (DWI) and stenosis of middle cerebral artery (MCA) or internal carotid artery (ICA). Methods With exclusion of cardioembolism, 73 consecutive patients with acute cerebral infarction of the unilateral MCA territory on DWI were analyzed. All patients got magnetic resonance imaging (MRI) and angiography (MRA) within 24 hours after onset, and 7 patients also had digital subtraction angiography (DSA). The patients were classified into single lesion group or scattered lesions group according to the DWI findings. The incidence of stenosis or occlusion of ipsolateral MCA, intracranial and extracranial ICA were compared between the two groups. Results 42 patients had scattered lesions and 31 patients had single lesion. The scattered-lesions group had a high incidence of ipsilateral extracranial ICA or MCA occlusion or severe stenosis ( 25.6%versus 0, x2 = 10.6, P = 0.001 ) and a high incidence of ipsilateral intracranial ICA or MCA moderate or mild stenosis (31.0% versus 9.7% ,x2 =4.717, P =0.03 ). A positive correlation was found between the scattered lesions and severe or multifocal stenosis of ipsilateral ICA and MCA ( OR: 13.7, 95% CI: 3.6 to 52.5). There was a low incidence of absence of extra- and intracranial stenosis on MRA or DSA in the scattered-lesions group ( 11.9% versus 32.3%, x2= 4.526, P = 0.033 ). A negative correlation was found between the scattered lesions and absence of large-artery stenosis ( OR: 0.284, 95% CI: 0.09 to 0.94).Conclusions ( 1 ) Patients with acute cerebral infarction and scattered lesions on DWI were more likely to suffer from stenosis or occlusion of ICA or MCA, especially over the extracranial ICA. (2) Patients with single lesion were less likely to have severe or multiple stenosis of MCA and ICA, indicating the relevance of small-vessel pathogenesis.

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Evaluate using of middle-latency somatosensory evoked potentials in predicting outcomes of patients with severe stroke

Yan ZHANG ; Yingying SU ; Shuying XIAO

Chinese Journal of Neurology.2011;44(1):38-42. doi:10.3760/cma.j.issn.1006-7876.2011.01.011

Objective To explore the effectiveness of using middle-latency somatosensory evoked potentials (MLSEP) to predict the prognosis in patients with acute severe stroke. Methods MLSEP, shortlatency somatosensory evoked potentials (SLSEP), and Glasgow Coma Scale (GCS) were recorded in 70 acute severe supratentorial stroke patients within 1 week after onset. All patients were evaluated with modified Rankin Scale (mRS) and follow-up in 6 months after onset. SLSEP and MLSEP were recorded in 20 normal controls. The consistency between MLSEP, SLSEP, GCS and prognosis, as well as the prognostic authenticity of MLSEP, SLSEP, and GCS were analyzed. Results Bilateral N20, N35, and N60 exited in all normal controls. Some waves of MLSEP were absent in stroke patients, and the proportion of absent waves in ipsilateral MLSEP was higher than in contralateral MLSEP. The consistency between bilateral absence of N60 and unfavorable outcome ( Kappa = 0.828, P ＜ 0.01 ), and between bilateral absence of N60 and death ( Kappa = 0.686, P ＜ 0.01 ) was satisfactory. By using the prognostic authenticity analysis of predictors, the ipsilateral absence of N60 showed the highest sensitivity ( 100% ) for unfavorable outcome and death, which added 14.3% compared with the sensitivity of ipsilateral absence of N20 ( 85.7% ). Bilateral absence of N60 showed a high specificity of 100% for unfavorable outcome, which equaled bilateral absence of N20.However, it showed a lower specificity ( 82.9% ) for death, than bilateral absence of N20 (97.1% ).Conclusions MLSEP was able to reflect the degree of brain injury and showed higher sensitivity than SLSEP for predicting unfavorable outcomes. Therefore combined use of MLSEP and SLSEP in evaluating and predicting the outcomes in brain injuries is suggested.

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Evaluation of using Montreal Cognitive Assessment in patients with Parkinson' s disease with cognitive impairment

Ling CHEN ; Weiguo LIU ; Yanyan ZHAO ; Ping HUA ; Yang WANG ; Ning ZHANG

Chinese Journal of Neurology.2011;44(3):200-202. doi:10.3760/cma.j.issn.1006-7876.2011.03.014

Objective To examine the application of Montreal Cognitive Assessment (MoCA) in Parkinson' s disease (PD) patients with normal general cognitive function by Mini-Mental State Examination (MMSE) evaluation.Methods PD patients were examined with MMSE, and those having a normal ageand education-adjusted MMSE score were included in the further study of MoCA testing.The patients with MoCA score not less than 26 were selected into normal control PD-NC group, and the patients with less than 26 into cognitive impaired PD-CI group.Scores of MoCA subtests were used in PD-CI group and PD-NC group to characterize cognitive changes in PD patients with mild cognitive impairment (MCI).MoCA score in PD-CI group used as dependent variable, and sex, educational level, age, course of disease, Hamilton Depression Rating Scale (HAMD), Hamilton Anxiety Rating Scale (HAMA), Self-rating depression Scale (SDS), Self-rating Anxiety Scale (SAS) and Unified Parkinson' s Disease Rating Scale (UPDRS) were used as independent variable, the risk factors of CI in PD patients was analysed by Linear Regression Analysis.Results There are 52.6% (112/213) PD patients with MMSE ≥ 26 while their MoCA < 26.Significant differences were observed in subtests of MoCA in visuospatial, executive, naming, attention,language, abstract, delayed recall and orientation between PD-CI group and PD-NC group (all P <0.01).Univariate and multivariate regression analysis showed that educational level is the most significant factor in PD-CI (OR:0.72, 95% CI 0.64-0.81, P < 0.05).Conclusions There is a high proportion of PD patients whose MMSE test showed normal but MoCA test showed cognitive impairment.MoCA examination was used to detect cognitive function of PD patients.Furthermore we suggest consider the education level in PD patients when evaluate their cognitive function.

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Neuronal damage and neurite change in cell model of intractable epilepsy

Yuan WU ; Xiuying LIU ; Xuefeng WANG ; Yulan TANG ; Lu YU ; Jie SU ; Yuejuan WU ; Meigang MA

Chinese Journal of Neurology.2011;44(3):196-199. doi:10.3760/cma.j.issn.1006-7876.2011.03.013

Objective To establish the cell model of intractable epilepsy and to observe its neuronal damage and morphologic change of neurites.Methods The model was established by exposing hippocampal neurons to Mg2+ -free media for 3 hours on days 10 of culture.Expression of lactic acid dehydrogenase (LDH) in supernatant was measured as an index of neuronal damage.The morphologic change of neurons and neurites was observed by optical microscope and scanning electron microscope (SEM).Results Compared to the control group, level of LDH (U/L) was significantly increased in the model group at different time points (3 hours: 4.26 ± 1.28, 6 hours: 6.56 ±2.34 and 24 hours: 16.67 ±3.57, P <0.05).With time prolonging, release of LDH in the model group was gradually increased (F = 39.316,P <0.05).Under optical microscope, neurons of model group migrated closely to each other and neurite connections appeared to be gradually "reticulated" after Mg2+ -free media treatment for 24 hours; and the "reticulated" neurites connections become more obvious after 72 hours.Under SEM, neuronal membrane was rough and had several small depressions, neurites were interlaced in cluster.Conclusions Neuronal damage and morphologic change of neurites are verified in the cell model of intractable epilepsy.

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The pathological characteristics of plasmacytoid dendritic cells in muscle tissue of dermatomyositis

Fuchen LIU ; Wei LI ; Shuping LIU ; Tingjun DAI ; Yuying ZHAO ; Chuanzhu YAN

Chinese Journal of Neurology.2011;44(3):174-177. doi:10.3760/cma.j.issn.1006-7876.2011.03.007

Objective To study the histological features of plasmacytoid dendritic cells (pDC) in muscle tissue affected by dermatomyositis (DM) and to discuss the pathological significations of pDC.Methods Muscle tissues from 30 cases of DM and 25 cases of polymyositis (PM) were collected.HE stain, immunohistochemistry studies were carried out in all muscle samples.Results Pathological features of DM included: perifascicular atrophy (25/30); punched-out fiber (14/30); perivasculitis (17/30),inflammatory infiltration in the endomysium(6/30).Using immunohistochemistry study, 19 cases from DM were infiltrated by macrophages which are CD68 positive and CD303 negative, 20 cases with DM were infiltrated by pDC which are CD303 positive.The location of pDC were: perivascular of interfascicular septae only (15/20); endomysium only (3/20) and both (2/20).Myopathic damage such as necrotic and regenerating fibers and inflammatory infiltration could be seen in PM.There was few pDC infiltration in PM.Conclusions There is few pDC in muscle tissue affected by PM and many pDC in muscle tissue affected by DM with infiltration mainly in the wide interfascicular septae.pDC may be connected to perifascicular atrophy and play a roll in the pathogenesis of DM.

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Effects of presenilin-1 V97L mutation on neprilysin expressing in SH-SYSY cell

Zhe CHENG ; Wei QIN ; Jianping JIA

Chinese Journal of Neurology.2011;44(3):155-158. doi:10.3760/cma.j.issn.1006-7876.2011.03.002

Objective To study the mechanisms of increasing amyloid [β1-42 (Aβ42) level by presenilin-1 (PS-1) mutation of V97L.Methods Expression level of neprilysin (NEP) in nontransfected, or mock vector, wild type (wt) PS-1 and V97L-PS-1-transfected SH-SY5Y cells were assessed by reverse transcriptional-polymerase chain reaction (RT-PCR) and Western blot.The level of Aβ42 was also assessed by enzyme linked immunosorbent assay (ELISA).Results The mRNA level of NEP was decreased significantly in PS-1 V97L transfected cells (0.650 ± 0.010) compared to that in normal cells (1.090 ± 0.015), wt PS-1 gene (1.040 ± 0.021) and mock (1.080 ± 0.020) stably transfected cell lines (t = 9.236, 10.452, 5.678; all P < 0.01).Although there was a decreased tendency in the protein expression of NEP in PS-Ⅰ V97L transfected cells (1.000 ± 0.126)compared to that in normal cells (1.020 ± 0.110), wt PS-1 gene (1.040 ±0.110), mock (2.130 ±0.130) stably transfected cell lines, nosignificant differences were found.The expression of Aβ42 was increased significantly in PS-1 V97L transfected cells compared to other cell lines (t = 2.109, 3.355, 3.976; all P < 0.01).Conclusions PS-1 V97L mutation can decrease the transcription of NEP, however, in contrast, this mutation also resulted in increased Aβ42.The mechanism needs further analysis.

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Nerve conduction studies in 205 patients with amyotrophic lateral sclerosis

Xinhong FENG ; Liying CUI ; Mingsheng LIU ; Yuzhou GUAN ; Benhong LI ; Hua DU

Chinese Journal of Neurology.2011;44(3):178-181. doi:10.3760/cma.j.issn.1006-7876.2011.03.008

Objective To investigate the F-wave and nerve conduction in patients with amyotrophic lateral sclerosis (ALS) and explore the correlation between these parameters and muscle strength, disease duration and onset site.Methods The data of outpatients and inpatients diagnosed with ALS were collected in Peking Union Medical College Hospital from January 1997 to May 2008.Standard sensory and motor nerve conduction study of the median nerve, ulnar nerve and tibial nerve was performed in 205 patients with ALS.F-wave velocity and frequency was measured in median nerve.Parameters for analyses included sensory conduction velocity and amplitude, distal motor latency (DML), and compound muscle action potential (CMAP) amplitude.Correlation between muscle strength and DML, CMAP amplitude or F-wave frequency were also explored.Results Delayed DML of the median nerve, ulnar nerve and tibial nerve were found in 24.9% (48/193), 15.3% (25/163), 21.2% (7/33) of patients respectively.Decreased CMAP amplitudes were found in 57.0% (110/193), 49.7% (81/163), 39.4% (13/33) of patients respectively.Decreased F-wave frequency of the median nerve was found in 68.9% (122/177) of patients.The abnormality of DML,CMAP amplitude and F-wave frequency of median nerve were increased in weaker muscles.Decreased median nerve CMAP amplitude (81.5% (53/65)) and F-wave abnormality (decreased persistence 70.9%(44/62), absent responses 45.1% (28/62)) in spinal onset groups were significantly higher than those in bulbar onset groups (CMAP 32.4% (11/34); F-wave: decreased persistence 38.2% (13/34), absent responses 14.7% (5/34); x2 = 23.629, 9.753, 9.029,all P <0.01).Compared with the bulbar onset group,the abnormality of DML in spinal onset group was higher, but not reach statistical significance.Logistic regression revealed a strong direct association between decreased CMAP amplitudes and upperextremity muscles strength, disease duration and onset symptom.Abnormality of F-wave frequency was associated with upper-extremity muscles strength and onset symptom.Conclusions Delayed DML and decreased amplitude of CMAP are found in ALS patients.CMAP amplitude is a sensitive parameter related to the severity of ALS.F-wave velocity is relatively normal while F-wave frequency of the median nerve is correlated with muscle strength.Decreasing CMAP amplitude and F-wave frequency are correlated strongly with muscle weakening,disease duration and symptom onset over limbs.

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Visual working memory impairment in 30 patients with myasthenia gravis

Yi XING ; Kai LI ; Shuhua LI ; Haibo CHEN

Chinese Journal of Neurology.2011;44(3):171-173. doi:10.3760/cma.j.issn.1006-7876.2011.03.006

Objective To investigate the situation of visual memory impairment in patients with myasthenia gravis (MG).Methods Thirty MG patients and 28 normal control subjects were tested with a battery of computerized tests (modified Smith working memory software), which was designed to assess visual-spatial and visual-object working memory.Results There was no significant difference in the accuracy rate of visual-object working memory test between the MG group and normal controls (MG group 73.4% ±9.7%, normal controls 72.7% ±8.5%).The accuracy rate of the visual-spatial working memory test in the MG group (76.6% ± 16.5%) was significantly lower than that in the normal controls (86.6% ±7.5%, Z = -2.204, P = 0.028).Conclusion The visual-spatial working memory is probably impaired while the visual-object working memory is relatively spared in MG patients.

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The study on the role of transcription factor GATA binding protein 3 in familial Alzheimer's disease pathogenesis

Wei QIN ; Aihong ZHOU ; Xiumei ZUO ; Fen WANG ; Zhe CHENG ; Jianping JIA

Chinese Journal of Neurology.2011;44(3):159-162. doi:10.3760/cma.j.issn.1006-7876.2011.03.003

Objective To investigate the mechanisms of decreasing insulin degrading enzyme (IDE) level by mutation V97L in the gene presenilin 1 (PS-1).Methods Transcription factor GATA binding protein 3 (GATA-3) activity was assessed by protein/DNA array and verified by Western blot in SH-SY5Y cells transfected by PS-1 mutation V97L.Results Protein/DNA array and Western blot revealed that there was increased transcript factor activity (5.5 times high) and protein level of GATA-3 in V97L-PS-1 transfected SH-SY5Y cells.Transcription factor GATA-3 can bind to the IDE promoter and negatively control the IDE transcription level.Conclusion PS-1 mutation V97L may regulate the transcription of IDE via GATA-3, and subsequently involve in deposition of Aβ42 and development of Alzheimer's disease.

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