The clinical features, electroneurophysiology, neuroimaging and gene characteristics of one case of early adult-onset dentatorubral-pallidoluysian atrophy (DRPLA) with an onset of epilepsy were reported. The female patient had the onset manifestation of epilepsy. Whereafter, she progressively developed marked cerebellar ataxia, mental retardation and choreic movement. Electroencephalography showed that there were multiple complex slow waves in the whole brain cortex. Magnetic resonance imaging showed the patient had marked atrophies in the cerebral cortex, brainstem and cerebellum. Atrophin-1 gene detection revealed that the numbers of CAG repeats were 15/65 (the patient) and 14/54 (her father) respectively. Her father had no clinical manifestations until now. The mother and brother were normal. DRPLA has diverse clinical presentation,heterogeneous phenotypic spectrum, early adult-onset DRPLA is rare, and the specific gene detection can be helpful for a definitive diagnosis.

Objective:To analyze the clinical characteristics of hereditary neuralgic amyotrophy caused by SEPT9 gene mutation in a family to promote understanding this disease.Methods:The clinical manifestations, examination, imaging and electrophysiology of a family with hereditary neuralgic amyotrophy diagnosed by gene testing in the 960th Hospital of People′s Liberation Army in August 2013 were retrospectively analyzed.Results:The age of the onset ranged from children to middle-aged. The parent-child couples demonstrated the existence of marked anticipation, with earlier age of onset in successive generations. Male and female were involved. The forearm had circular skin creases at a young age. The sudden upper limb pain and weakness were first symptoms, the distal upper limb muscle weakness was more obvious than the proximal, and the wrist was saggy. The course was described as relapsing-remitting, and there were sufficient laxity of the skin and generalized muscle wasting. The cerebrospinal fluid examination and magnetic resonance examination of brachial plexus nerve were normal. The electrophysiology was limited to the peripheral nerve damage of the double upper limbs.Conclusions:Relapsing-remitting focal brachial plexus pain and weakness are the main manifestations of hereditary neuralgic amyotrophy, and the laxity of the skin and generalized thin muscle appear on sequel stage of the clinical repeated attack. The electrophysiological lesion is limited to brachial plexus nerve.

Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) is a primary headache syndrome with an unclear pathogenesis. However, there is increasing evidence in the literature for secondary SUNCT being attributable to certain known lesions. We explored the possible neurobiological mechanism underlying SUNCT based on all reported cases of secondary SUNCT for which detailed information is available. Here we report a case of neuromyelitis optica spectrum disorders that had typical symptoms of SUNCT that might have been attributable to involvement of the spinal nucleus of the trigeminal nerve. We also review cases of secondary SUNCT reported in the English-language literature and analyze them for demographic characteristics, clinical features, response to treatment, and imaging findings. The literature review shows that secondary SUNCT can derive from a neoplasm, vascular disease, trauma, infection, inflammation, or congenital malformation. The pons with involvement of the trigeminal root entry zone was the most commonly affected region for inducing secondary SUNCT. In conclusion, the neurobiology of secondary SUNCT includes structures such as the nucleus and the trigeminal nerve with its branches, suggesting that some cases of primary SUNCT have underlying mechanisms that are related to existing focal damage that cannot be visualized.
Headache Disorders ; Headache* ; Inflammation ; Neurobiology ; Neuromyelitis Optica ; Pons ; Tears* ; Trigeminal Nerve ; Vascular Neoplasms

Objective The scale lists applied in the diagnosis and treatment of heat stroke generally draw on other specialty scales, and there is no specific scoring system on heat stroke verified by large-scale clinical trials.The paper compared common acute physiology and chronic health evaluationⅡ( APACHEⅡ) , dissolved inorganic carbon score( DIC score) , multiple organ dysfunction score( MOD score) for the prognostic evaluation of heat stroke patients, the sum of three scores and the sum of the percentages of three scores to the score sum on prognostic evaluation of heat stroke patients in order to find a scoring method with higher clinical value. Methods APACHEⅡ, MOD score, DIC score, the sum of three scores and the sum of three scores were applied on 43 patients with heat stroke admitted in our neurological intensive care unit ( NICU) or in intensive care unit ( ICU) .The analysis of the area under the receiver operating characteristic ( ROC) curve( AUC) analysis was made among five scores. Results The weighted sum of three scores has the largest AUC ( 0.896 ) in predicting the death of HS patients according to AUC.The optimal MOD score was 5.5 in predicting the death of HS with a sensitivity of 72.7%and a specifici-ty of 99.69%.The optimal DIC score was 1.5 in predicting the death of HS with a sensitivity of 100%and a specificity of 56.2%.The op-timal score of the sum of the percentages of three scores to the score sum was 0.727 in predicting the death of HS with a sensitivity of 72.7%and a specificity of 100%. Conclusion All the five scores can predict the prognosis of patients with heat stroke.However, due to the deficiency in the prognosis value, a more specific scoring system needs to be developed.

Objective To analyze the risk factors of post-stroke disability in patients with acute cerebral infarction.Methods Total 1 137 consecutive patients with acute cerebral infarction admitted in Department of Neurology, General Hospital of Jinan Military Region, were prospectively recruited from August 2010 to August 2014.According to Oxfordshire Community Stroke Project(OCSP), 275 patients were classified as total anterior circulation infarction, 377 as partial anterior circulation infarction,305 as posterior circulation infarction and 180 as lacunar infarction.The baseline data including age, gender, National Institute of Health Stroke Scale ( NIHSS) score were recorded.Recovery was assessed by modified Rankin Scale ( mRS) 6 months after stroke by telephone interview ( mRS≤2:good prognosis, 2

Objective To investigate the influence of hyperfibrinogenemia in outcome of patients with acute brain infarction.Methods Consecutive acute cerebral infarction patients,admitted to our hospital from August 2010 to August 2014,were prospectively recruited.The baseline data,including age,gender,serum creatinine level,National Institute of Health Stroke Scale (NIHSS) scores,types of Oxfordshire Community Stroke Project (OCSP:total anterior circulation infarct,partial anterior circulation infarct,posterior circulation infarct and lacunar infarct),and plasma fibrinogen level within 24 h of admission were recorded.Patients were divided into two groups according to with or without hyperfibrinogenemia.Recovery was assessed by modified Rankin Scale (mRS) 180 days after stroke by telephone interview (mRS ≤ 2 reflected good prognosis,and mRS＞2 reflected unfavorable prognosis).Multi-variant Logistic regression analysis and Kaplan-Meier curve analysis were performed to analyze the influence of fibrinogen in bad prognosis and mortality ratio.Results A total of 495 patients were enrolled,including 123 patients with hyperfibrinogenemia.Good prognosis was noted in 200 patients and bad one was noted in 295 patients.As compared with patients without hyperfibrinogenemia,acute ischemic patients with hyperfibrinogenemia had significantly higher rate of bad prognosis (34.41％ vs.60.98％,P＜0.05);as compared with patients with good prognosis,patients with bad prognosis had significantly higher fibrinogen (3.00[0.95] g/L vs.3.35[1.4] g/L,P＜0.05).Spearman correlation analysis indicated that hyperfibrinogenemia was correlated to the mRS scores (r=0.219,P=0.026).Multivariate Logistic regression indicated that hyperfibrinogenemia within 24 hours since onset was an independent prognostic factor for long-term poor outcomes (OR=1.772,95％ CI:1.1003-3.130,P=0.049).Kaplan-Meier estimate of patients with hyperfibrinogenemia for cumulative 180 days survival function for all-cause mortality was lower than those without hyperfibrinogenemia (76.42％ [94/123] vs.91.40％ [340/372]).Conclusion In patients with acute cerebral infarction,hyperfibrinogenemia within 24 hours since onset is an independent prognostic factor for long term unfavorable outcome;the survival rate of patients with hyperfibrinogenemia is lower than that of patients without hyperfibrinogenemia.

Objective To construct the lentivirus vectors of high temperature requirement protease A1 (HTRA 1) gene as well as it's mutant gene (1091 T＞C HTRA 1),and investigate the effect of their infection on proliferation,migration and apoptosis of human brain vascular smooth muscle cells (HBVSMC).Methods The lentivirus vectors of wild type HTRA1 and mutant HTRA1 were constructed,cultured and identified,and then,infected into HBVSMC.Empty lentivirus vectors were used as controls.CCK-8 method was used to detect the cell proliferation for a consecutive five d.Transwell assay was used to detect the cell migration,and cell apoptosis was detected by flow cytometry.Results As compared with those from the control group,cells from wild-type HTRA 1 group showed no statistically different proliferation rate (P＞0.05),while cells from mutant HTRA 1 group had significantly reduced proliferation rate since the third d (P＜0.05).Migration rate of cells from control group,wild type HTRA 1 group and mutant HTRA 1 group was 0.474±0.079,0.612±0.037,and 0.283±0.064,respectively,with significant differences (P＜0.05).Apoptosis percentage of cells from control group,wild type HTRA 1 group was 3.68％±0.23％ and 3.13％±0.07％,with significant difference (P＜0.05),while that of mutant H TRA 1 groupwas3.70％±0.20％,showingnosignificantdifferenceascomparedwiththatfromcontrolgroup (P＞0.05).Conclusion HBVSMC infected by HTRA 1 mutant gene display attenuation of proliferation and migration activity,but have no statistical change in apoptosis.

Objective To investigate the correlation between chronic kidney disease (CKD) and long-term outcomes in a large cohort of unselected patients with acute cerebral infarction.Methods Consecutive acute cerebral infarction patients hospitalized in Department of Neurology,General Hospital of Jinan Military Region were prospectively recruited from August 2010 to November 2013.The baseline data including age,sex,the National Institute of Health Stroke Scale (NIHSS) scores,type of Oxfordshire Community Stroke Project (OCSP:total anterior circulation infarct,partial anterior circulation infart,posterior circulation infarct and lacunar infarct),serum creatinine were recorded.Estimated glomerular filtration rate (eGFR) was calculated according to CKD epidemiology collaboration (CKD-EPI) equation.CKD was defined as eGFR ＜ 60 ml · min-1 · 1.73 m-2 body surface area.Patients were divided into eGFR≥60 ml · min-1 · 1.73 m-2 group and eGFR ＜ 60 ml · min-1 · 1.73 m-2 group.Recovery was assessed by modified Rankin Scale (mRS) 180 days after stroke by telephone interview (mRS≤2 reflected good prognosis,and mRS ＞ 2 reflected unfavorable prognosis).Multinominal Logistic regression analysis,Kaplan-Meier curve and log rank test were used.Results Eight hundred and fifty-two patients were enrolled,among them 93 patients were with CKD.Compared to patients without CKD,acute ischemic patients with CKD were older ((70.56 ± 11.86) years vs (63.11 ± 12.15) years,t =5.60,P =0.000),more likely with NIHSS ≥7 (59.14％ (55/93) vs 32.54％ (247/759),x2 =25.61,P =0.000),more likely with hypertension (89.25％ (83/93) vs 77.34％ (587/759),x2 =6.99,P =0.007),more likely with atrial fibrillation (29.03 ％ (27/93) vs 9.5 ％ (72/759),x2 =30.82,P =0.000),more likely with congestive heart failure (13.98％ (13/93) vs 3.03％ (23/759),x2 =24.54,P =0.000),more likely with tumour (6.50％ (6/93) vs 2.24％ (17/759),x2 =5.59,P =0.031).CKD was a independent prognostic factor for long-term poor outcome (OR =2.034,95％ CI 1.194-3.468) and long term mortality (OR =2.657,95％ CI 1.450-4.870).Kaplan-Meier estimate of patients without CKD for cumulative 180 days survival function for all-cause mortality was higher than those with CKD (79.57％ (74/93) vs 93.54％ (710/759),Log rank test:x2 =23.602,P =0.000).Conclusions Acute ischemic stroke patients with CKD are with more comorbidities.CKD is a independent prognostic factor for long-term poor outcomes and long term mortality in patients with acute cerebral infarction.

Objective To investigate the correlation between anemia and outcome in a large cohort of unselected patients with acute cerebral infarction.Methods Consecutive acute cerebral infarction patients who were hospitalized were prospectively recruited from August 2010 to November 2013.Eight hundred and fifty-eight patients were enrolled,and the baseline data including age,sex,National Institute of Health Stroke Scale(NIHSS) scores,type of Oxfordshire Community Stroke Project(OCSP:total anterior circulation infarct,partial anterior circulation infarct,posterior circulation infarct and lacunar infarct),serum creatinine,initial hemoglobin level,initial hematocrit level,etc,were recorded.Hemoglobin level and hematocrit level during hospitalization were also recorded.Domestic criteria were used to define if the patient had anemia on admission.Recovery was assessed by modified Rankin Scale (mRS) 180 days after stroke by telephone interview (mRS scores ≤ 2 reflected good prognosis,and mRS scores ＞ 2 reflected unfavorable prognosis).The influence on outcome by anemia on admission,initial hemoglobin level,nadir hemoglobin level,nadir hematocrit level was analyzed by multinomial Logistic regression analysis.Results Odds ratio of initial hemoglobin level for poor outcome was 1.013 (95％ CI 1.001-1.024,P =0.027) with each decrease in hemoglobin of 1 g/dl.Initial anemia(OR =2.417,95％ CI 1.202-4.859,P =0.013) was a independent prognostic factor for mortality;odds ratio of nadir hemoglobin level for mortality was 1.016(95％ CI 1.002-1.030,P =0.026) with each decrease in hemoglobin of 1 g/dl;odds ratio of nadir hematocrit level for mortality was 1.047(95％ CI 1.003-1.093,P =0.037) with decrease in hematocrit of one percentage point.Conclusions Initial hemoglobin level was a independent prognostic factor for poor outcome in patients with acute cerebral infarction.Anemia on admission,nadir hemoglobin level,nadir hematocrit level were independent prognostic factors for mortality in patients with acute cerebral infarction.