Overlap between Headache, Depression, and Anxiety in General Neurological Clinics: A Cross-sectional Study / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Many studies have reported that depression and anxiety have bidirectional relationship with headache. However, few researches investigated the roles of depression or anxiety in patients with headache. We surveyed the prevalence of depression and anxiety as a complication or cause of headache among outpatients with a chief complaint of headache at neurology clinics in general hospitals. Additional risk factors for depression and anxiety were also analyzed.</p><p><b>METHODS</b>A cross-sectional study was conducted at 11 general neurological clinics. All consecutive patients with a chief complaint of headache were enrolled. Diagnoses of depression and anxiety were made using the Chinese version of the Mini International Neuropsychiatric Interview, and those for headache were made according to the International Classification of Headache Disorders, 2nd Edition. The headache impact test and an 11-point verbal rating scale were applied to assess headache severity and intensity. Logistic regression was used to analyze risk factors of patients with headache for depression or anxiety.</p><p><b>RESULTS</b>A total of 749 outpatients with headache were included. Among them, 148 (19.7%) were diagnosed with depression and 103 (13.7%) with anxiety. Further analysis showed that 114 (15.2%) patients complaining headache due to somatic symptoms of psychiatric disorders and 82 (10.9%) had a depression or anxiety comorbidity with headache. Most patients with depression or anxiety manifested mild to moderate headaches. Poor sleep and severe headache-related disabilities were predictors for either depression or anxiety.</p><p><b>CONCLUSION</b>Clinicians must identify the etiology of headache and recognize the effects of depression or anxiety on headache to develop specific treatments.</p>

Post-marketing clinical study of traditional Chinese medicine--lessons learned from comprehensive evaluation of Fufang Zaoren capsule / 中国中药杂志

By comprehensive review and analysis of post-marketing clinical research on the efficacy and safety,we concluded that Fufang Zaoren capsule has certain therapeutic effects for insomnia, although current clinical research design needs improving. The post-marketing clinical studies also showed that it causes several adverse reactions at the recommended doses, such as chills, fever, dizziness, nausea, shortness of breath, chest tightness and palpitations, whereas high doses of Fufang Zaoren capsule can cause delayed extrapyramidal symptoms. Health Canada government website also prompted the L-tetrahydropalmatine in Fufang Zaoren capsule caused liver damage in pregnant women. The authors summarized the risk points, factors and risk control in the clinical use of Fufang Zaoren capsule and also present their perspective on the research status, existing problems and corresponding countermeasures in the post-marketing clinical re-evaluation of traditional Chinese medicine.

Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate clinical and imaging features of a patient with adult-onset Krabbe disease and to detect the underlying genetic mutations.</p><p><b>METHODS</b>Clinical and cranial MRI features of the patient were analyzed. Pathogenesis, clinical manifestation, cranial MRI features and diagnostic criteria for the disease were discussed.</p><p><b>RESULTS</b>The patient had presented asymmetric limb weakness and difficulty in walking. Electromyography suggested peripheral nerve demyelination. Cranial MRI showed increased signal intensity in white matter with involvement of the corticospinal tracts. Screening of GALC gene mutation has found the patient to be heterozygous for T1685C (Ile562Thr) and homozygous for A1921G (Thr641Ala), both of which were considered to be polymorphisms. In addition, he was heterozygous for G136T (Asp46Tyr), which had not been described previously.</p><p><b>CONCLUSION</b>Clinical manifestations of adult-onset Krabbe disease may be atypical. Cranial MRI and galactocerebroside activity assay should be carried out for patients featuring chronic progressive corticospinal tract injury. An Asp46Tyr mutation probably underlies the disease in the current case.</p>

Awareness of secondary stroke prevention guidelines among neurologists in China: a cross-sectional online survey / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Recurrent stroke following a transient ischemic attack or minor stroke is frequent but potentially preventable. The prevention outcome is, by and large, dependent on how well physicians understand and implement prevention guidelines. Yet, little is known about the scope of physicians' awareness and implementation of secondary stroke prevention guidelines in the mainland of China. This study aimed to identify the gaps between physicians' clinical practice and guidelines for secondary stroke prevention in China.</p><p><b>METHODS</b>A nation-wide online survey with a 16-item questionnaire that reflects major components of the Chinese National Secondary Stroke Prevention Guidelines was performed between September 1, 2009 and October 31, 2009.</p><p><b>RESULTS</b>A total of 3489 neurologists from third tier hospitals completed the survey. The percentage of the physicians who were aware of the control targets and prevention measures recommended in the Chinese national guidelines was generally lower than reported for developed countries.</p><p><b>CONCLUSIONS</b>Physicians in the mainland of China lack sufficient awareness of secondary stroke prevention guidelines. Continuing education is highly recommended.</p>

Recurrent Fisher-Bickerstaff syndrome: report of a Chinese case / 中华医学杂志(英文版)

Fisher-Bickerstaff syndrome (FBS) was recently proposed to help to diagnose the conditions that overlap Fisher syndrome and Bickerstaff’s brainstem encephalitis, as well as the unclassified conditions that had ophthalmoplegia and ataxia with clear consciousness, flexor plantar response and preserved tendon reflexes. Recurrences are exceptional with Guillain-Barré syndrome and its variants. Here we reported a patient with diagnosis of recurrent FBS. The patient presented with recurrent drowsiness, unsteady gait, diplopia and reduced deep tendon reflexes, which met the diagnostic criteria for FBS. The interval was eight months. He was treated with intravenous immunoglobulins during each episode and got good recovery. To our knowledge, this is a relatively early report about recurrent FBS case that had central and peripheral involvement during each episode in China.

Correlation analysis on changes between cognitive ability and brain fMRI after acupoint thread embedding in Alzheimer's disease patients / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To explore the mechanism of acupoint thread embedding (ATE) in treating Alzheimer's disease (AD) by means of brain functional magnetic resonance imaging (fMRI).</p><p><b>METHODS</b>Twenty-six patients with mild to moderate AD were assigned to the tested group and the control group in pairing, 13 in each group. ATE was performed in patients of the tested group at Shenmen (HT7), Fenglong (ST40), Taixi (KI3) and Zusanli (ST36) acupoints, once every month for 6 times in total; but for patients of the control group only sham operation was done at the same acupoints. The correlation between cognitive ability and fMRI were assessed by comparing the scores of Mini-Mental State Examination (MMSE) and Alzhemer's Disease Assessment Scale-Cognitive section (ADAS-Cog), monitored at two time points, namely, in one week before starting treatment and 1 week after terminating 6-month treatment. Furthermore, fMRI was detected to obtain the data of the cerebral blood oxygen content before treatment and 6 months after completing the 6-month therapeutic course. Correlation analysis was conducted on the obtained data using software SPM.</p><p><b>RESULTS</b>After treatment, changes of MMSE score significently increased in the test group (P < 0.01) and decreased in the control group (P < 0.01), and ADAS-Cog decreased in the test group (P < 0.01) and increased in the control group (P < 0.05), showing statistical significance between the two groups (P < 0.01, P < 0.05). The activated regions related with the change of MMSE were mainly inferior frontal gyrus, middle frontal gyrus, superior frontal gyrus, transverse temporal gyrus, on the left cerebrum and superior frontal gyrus, middle frontal gyrus, precentral gyrus, hippocampal gyrus, cingulate gyrus, postcentral gyrus, paracentral lobule on the right cerebrum; those related with change of ADAS-Cog were superior frontal gyrus, middle frontal gyrus, fusiform gyrus, inferior temporal gyrus, hippocampal gyrus on the left cerebrum, and superior frontal gyrus, middle frontal gyrus, precentral gyrus, fusiform gyrus, transverse temporal gyrus, postcentral gyrus, middle occipital gyrus on the right cerebrum.</p><p><b>CONCLUSION</b>ATE could improve the cognitive ability of AD patients, its possible mechanism may be through the activation on the cognition related regions of frontal, temporal lobe and marginal system, as well as those of cerebellum.</p>

Clinical observation on catgut implantation at acupoint for treatment of Alzheimer's disease / 中国针灸

<p><b>OBJECTIVE</b>To observe clinical therapeutic effect of catgut implantation at acupoint on Alzheimer's disease (AD).</p><p><b>METHODS</b>Twenty-six cases with mild-moderate AD were divided into an acupoint catgut implantation group and a control group by sample-paired method. The acupoint catgut implantation group were treated with cat-gut implantation at Shenmen (HT 7), Zusanli (ST 36), Fenglong (ST 40) and Taixi (KI 3), and the control group with the same manipulation at the same acupoints with no catgut implanted, once each month, for 6 months. Mini-Mental State Examination (MMSE), Activity of Daily Living (ADL) and Alzheimer's Disease Assessment Scale-Cognitive Section (ADAS-Cog) scores were recorded before and after treatment and analyzed statistically.</p><p><b>RESULTS</b>After treatment, the score of MMSE significantly increased (P < 0.01), the score of ADAS-Cog significantly decreased (P < 0.01) and the score of ADL did not significantly change in the acupoint catgut implantation group; compared with the control group, the score of MMSE in the acupoint catgut implantation significantly increased (P < 0.01), the score of ADAS-Cog significantly decreased (P < 0.05) and the score of ADL did not significantly change in the acupoint catgut implantation.</p><p><b>CONCLUSION</b>Acupoint catgut implantation therapy increases cognitive function of the patient of AD, which provides a new therapeutic method for aged AD.</p>

Human neuroblastoma cells transfected with two Chinese presenilin 1 mutations are sensitized to trophic factor withdrawal and protected by insulin-like growth factor-1 / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Two novel presenilin 1 (PS1) mutations, V97L and A136G, were recently found to be involved in the early-onset of Alzheimer's disease in two Chinese families. This research aimed to verify their pathological effects.</p><p><b>METHODS</b>The human neuroblastoma SH-SY5Y cells stably transfected with these two Chinese presenilin 1 mutations were established to explore whether they are sensitive to, or influenced by, serum deprivation and protected by insulin-like growth factor-1 (IGF-1). Apoptosis rate, glucose uptake of the cells and the expression of glucose transport protein 1 (GLUT1) on cell membranes were examined.</p><p><b>RESULTS</b>The V97L or A136G mutants significantly decreased the cells viability and increased the apoptosis rate when compare to PS1wt and mock transfected cells. IGF-1 was found to improve the viability of these two kinds of mutant cells significantly, and to show a protective effect for the mutants when they were treated with trophic deprivation. The glucose uptake of each transfected cell line increased to about 25% after IGF-1 treatment, GLUT1 expression on the cell membrane increased modestly by about 15% - 20%.</p><p><b>CONCLUSIONS</b>Enhanced sensitivity to trophic withdrawal in the cells transfected with the two Chinese PS1 mutations may contribute to the neuron apoptosis. IGF-1 provided a protective effect to cells, possibly through an enhanced glucose transport and mitochondrial activities.</p>

Distribution characters and linkage disequilibrium analysis of APOM gene polymorphisms in Han population of North China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the distribution characters and linkage disequilibrium of apolipoprotein M gene (APOM) polymorphisms in Han population of North China.</p><p><b>METHODS</b>The single nucleotide polymorphisms (SNPs) in six exons and five introns of APOM gene of 330 normal subjects in Han population of North China were detected by PCR-restriction fragment length polymorphism and DNA sequencing analysis.</p><p><b>RESULTS</b>Three SNPs in Han Chinese were found, including rs805264 of intron 1, rs707922 and rs707921 of intron 5 of APOM gene. The frequency distribution of these SNPs was different among different races and territory. In addition, linkage disequilibrium among the SNPs of rs805264, rs707922 and rs707921 of APOM gene was found and A-T-A and G-G-C were predominant haplotypes.</p><p><b>CONCLUSION</b>There is apparent linkage disequilibrium among SNPs of APOM gene in Han population of North China.</p>

Clinical,cerebrospinal fluid and imaging characteristics of diffuse meningeal melanomatosis:a report of 5 cases / 中华神经科杂志

Objective To investigate the clinical, cerebrospinal fluid and imaging characteristics of 5 cases of diffuse meningeal melanomatosis.Methods The clinical manifestation, features of cerebrospinal fluid and image of 5 patients with meningeal melanomatosis diagnosed by biopsy or autopsy were retrospectively summarized.Results Clinical manifestations of these 5 cases included intracranial hyperpressure, meningeal irritation sign, intracranial nerves impairment, root pain of spinal nerve.In all of these 5 cases, retina hyperpigmentation above left discus opticus was found by funduseope in one case, and congenital melanocytic nevi were found in 4 patients, in which 2 cases were giant congenital melanocytic nevi.Increased lumbar puncture cerebrospinal fluid(CSF)pressure occurred in all cases.Subarachnoid hemorrhage was found in 3 cases.Analysis of CSF revealed increased protein in 4 cases and decreased glucose in 3 cases.Cranial MRI obtained after the intravenous administration of Gd-DTPA showed leptomeningeal enhancement.Malignant melanoma cells were found in CSF of 3 cases.Metastatic malignant melanoma cells were found by biopsy of axillary fossa lymph node in one case.Autopsy of one case revealed diffuse black pigmentation of the leptomeninges, especially in base of skull.Two cases were diagnosed as metastatic meningeal melanomatosis and 3 cases were possible primary meningeal melanomatosis. Conclusions Menings, root of cranial nerve and spinal nerve are impaired in meningeal melanomatosis, which is usually accompanied by congenital melanocytic nevi.Subarachnoid hemorrhage implies meningeal melanomatosis.Diagnosis can be identified when malignant melanoma cells are found in CSF.

A Chinese genetic prion disease:clinical,pathological manifestation and prion protein gene mutation analysis / 中华神经科杂志

Objective To report a large family with an autosomal dominant dementia associated with mutation in the prion protein gene(PRNP)and the detailed clinical,neuroimaging and pathological manifestations.Methods Two patients from a large family of dementia were admitted to our ward and the data of their medical history,physical examination,video electroenceplialogram,neuroimaging were colleted.A sterotactic biopsy of the right frontal lobe of the proband was done.After the informed consent from the family members obtained,the genomic DNA was extracted from peripheral blood leucocytes of 5 persons followed by in,vitro amplification using polymerase chain reaction(PCR).The PCR products were directly sequenced by Sanger method.PRNP gene sequence was also examined in 150 normal Chinese to exclude single nueleotide polymorphism.Results A missense mutation of PRNP gene in 5 farnily members was detected,resulting in Gll4V mutation in the prion protein,with M/M genotype of eodon 129.This mutation was not detected in 150 normal Chinese.The proband was diagnosed as inherited prion disease by her clinical features,including neuropsychiatrie disturbances and progressive dementia,and manifestations of neuroimaging,EEG,neuropathology and PRNP gene mutation.Conclusion The first autosomal dominant pedigree of family prion disease is found in China with G114V mutation in PRNP gene which may lead to the prion disease directly.

Correlativity between single nucleotide polymorphisms in ALOX5AP promoter gene and ischemic stroke in north Chinese Han population / 中华神经科杂志

Objective To investigate the role of single nucleotide polymorphisms(SNPs)of ALOXSAP promoter gene in ischemic stroke susceptibility in north Chinese Han population.Methods A total of 220 ischemic stroke patients of north Chinese Han population and 191 healthy controls that had been matched for age and sex were enrolled in this study.Polymerase chain reaction(PCR)and direct sequencing were used for target gene genotyping and SNPs analysis.Association study was performed to analyze the relationship between genotype and phenotype and logistic regression was adopted to adjust the bias of conventional stroke risk factors.Results Three novel SNPs located in the promoter of ALOXSAP gene were found and frequencies of G/A genotype of-499 site, G/T genotype of-290 site and G/G genotype of -190 site were significantly higher in ischemic stroke patients than controls.Meanwhile, three haplotypes consisted of these SNPs were identified to be correlated with ischemic stroke, including a protective haplotype, Hap I(OR O.54, 95% CI 0.408 to 0.715), and two risk ones, Hap Ⅱ(OR 2.91, 95% CI 1.351 to 6.239)and Hap Ⅲ(OR 18.82, 95% CI 2.562 to 138.38).Meanwhile, the frequencies of G/A genotype of-499 site, G/T genotype of-290 site, Hap Ⅱ and Hap Ⅲ were significantly higher in ischemic stroke patients with more severe cerebral atherosclerosis indicated by digital subtract angiography. Conclusion Three novel SNPs in promoter of ALOX5AP gene are closely associated with ischemic stroke susceptibility in north Chinese Han population.

Different patterns of brain activation between Alzheimer's disease with and without depression:a fMRI study during attention task / 中华神经科杂志

12.Meanwhile 10 healthy elderly subjects of similar age and gender ratio were matched as controls.There was no significant difference of age,gender,education,onset duration and MMSE.Attention task was carded out with silent color-word task:all participants pressed the left or right button to select the answer of congruence or incongruence when color nouns in red,green,blue or yellow ink appearing on the left part of screen and a target color appearing on the right part of the screen by.During the tasks,reaction time,false ratio,missing ratio and fMRI image acquisition was respectively recorded,which were later analyzed on SPSS 11.0 statistical parametric mapping software 2 (SPM2) respectively.Results The reaction time in dAD,AD and control group were (2214.4?1071),(2020.6?558.3) and (840.0?254.5) ms respectively.The false ratio were 8.3%,6.9% and 0.7% respectively,and the omit ratio were 3.6%, 2.9% and 0 respectively.Either AD with or without depression was slower than the controls in reaction time (P

Serum excitatory amino acids concentrations in patients with amnestic mild cognitive impairment or Alzheimer's disease / 中华神经科杂志

Objective To figure out changes of serum excitatory amino acids (EAAs) levels in patients with amnestic mild cognitive impairment (aMCI) and Alzheimer's disease (AD).Methods The levels of serum EAAs was assessed in 34 cognitively normal control subjects,30 patients with aMCI,and 32 patients with AD using high performance liquid chromatography (HPLC).Results ①Higher serum concentrations of glutamate((39.6?22.1) ?mol/L),alanine((282.5?71.3) ?mol/L) were found in the aMCI patients (P=0.044,P=0.007),and higher serum concentrations of glutamate ((42.2?21.8) ?mol/L),glycine ((464.2?142.6) ?moL/L) were found in the AD patients than in the control subjects (P=0.010,P=0.010).②No statistically significant difference of EAAs level between the aMCI and AD groups was found.③A close and positive correlation between the serum concentrations of glutamate, aspartate and the mini-mental status examination scores were found in AD patients:the 2 amino acid levels were higher in patients with mild dementia((42.1?21.3),(55.0?29.0) ?mol/L) than those with moderate or severe dementia ((25.4?9.2) ?mol/L,P=0.023;(34.6?11.1) ?mol/L,P=0.036). Conclusion EAAs,correlating with the severity of the condition,play a significant role in AD,while aMCI patients also have disturbance of metabolism of EAAs,indicating that it has similar pathogenesis to AD.

Effects of acupuncture at Neiguan (PC 6) on human brain functional imaging in different functional states / 中国针灸

<p><b>OBJECTIVE</b>To study on effects of acupuncture at a same point at physiological or pathological state on brain functional imaging.</p><p><b>METHODS</b>Electroacupuncture was given at Neiguan (PC 6) of the healthy senile persons (normal group) and the patients of Alzheimer's disease (AD group), and they were scanned on a 1.5 T MRI scanner and the data of functional magnetic resonance imaging (fMRI) were analyzed by Statistical Parametric Mapping (SPM99). The functional imaging of different brain regions were obtained from both the healthy group and the AD group.</p><p><b>RESULTS</b>Both the frontal lobe and the temporal lobe were activated in varying degrees by electroacupuncture at Neiguan (PC 6) in the healthy group. However, the frontal lobe, the temporal lobe and the cingulate gyrus as well as the cerebellum were activated in varying degrees and other brain regions were not activated by electroacupuncture at Neiguan (PC 6) in the AD group.</p><p><b>CONCLUSION</b>Acupuncture at Neiguan (PC 6) can activate functions of different brain regions in the healthy group and the AD group, indicating that acupuncture at Neiguan (PC 6) has different effects on functional magnetic resonance imaging in different functional states.</p>

Hearing impairment in patients with mild cognitive impairment and Alzheimer's disease / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To study the relationship between the degrees of peripheral auditory dysfunction and clinical dementia rating (CDR) in the patients with mild cognitive impairment (MCI) and Alzheimer's disease (AD).</p><p><b>METHODS</b>Pure-tone thresholds (PT), word recognition scores (WRS), acoustic immittance and auditory brain-stem responses (ABR) were done to evaluate the auditory function in 24 cases of the patients with MCI and in 31 cases of the patients with AD and in 50 subjects of the control group. Clinical dementia rating (CDR) questionnaire was used to define the dementia degree of the subjects.</p><p><b>RESULTS</b>Twenty-four MCI patients and 31 AD patients were selected, with average age of 72.0 +/- 6. 5 and 73.1+/-7. 5 of whom 70.8% and 67.7% were female separately. There was no significant difference in PTT and WRS between the MCI and AD groups (P > 0.05). In order to ascertain the relationship between hearing level and degree of dementia, all subjects were divided into 4 groups according their hearing loss (PTA <25 dB:0, 25-30 dB:1, 31-35 dB:2, >35 dB:3) to compare their CDR scores (the control:0, MCI:0. 5, mild AD:1). The more the CDR scores have, the more hearing impairment after controlling the confounder factors (Kendalls tau b = - 0.285, P = 0.018). No significant difference was found between the two groups in audiometry reliability, acoustic immittance and ABR (P > 0.05).</p><p><b>CONCLUSION</b>The positive relationship was founded the peripheral hearing impairment and the score of CDR questionnaire in less than 0.5 score of CDR groups and mild AD patients.</p>

Effects of electroacupuncture at neiguan (PC 6) and Shenmen (HT 7) on brain functional imaging / 中国针灸

<p><b>OBJECTIVE</b>To observe effect of electroacupuncture at Shenmen (HT 7) and Neiguan (PC 6) on brain functional imaging.</p><p><b>METHODS</b>The technique of functional magnetic resonance imaging was used to observe the activated state in different brain regions caused by electroacupuncture.</p><p><b>RESULTS</b>The frontal lobe was activated by electroacupuncture at Neiguan (PC 6) and the temporal lobe by Shenmen (HT 7).</p><p><b>CONCLUSION</b>Electroacupuncture at different acupoints can activate different brain regions, which provides objective basis for treatment of intellectual impairment by electroacupuncture at Neiguan (PC 6) and Shenmen (HT 7).</p>

Neuropsychiatric symptoms in dementia and elderly people in the community: results from the Beijing Dementia Cooperative Study / 中华流行病学杂志

<p><b>OBJECTIVE</b>To determine the prevalence of neuropsychiatric symptoms in dementia and normal elderly people living in the Chinese community of Beijing.</p><p><b>METHODS</b>A cross-sectional study derived from the Beijing Dementia Cooperative Study was carried out a population survey was carried out on a total of 1540 participants aged 65 years and older living in Beijing city and rural areas. All the individuals and 373 demented elderly people completed a series of neuropsychological examination and the Neuropsychiatric Inventory (NPI).</p><p><b>RESULTS</b>Among the dementia participants, 49.33% had exhibited neuropsychiatric symptoms (35.66% rated as clinically significant), in which 80.4% reported 2 or more disturbances, with depression (23.86%), apathy (21.72%) and anxiety (20.38%) being most common. Of the 1540 normal individuals, 18.25% of them exhibited neuropsychiatric symptoms (6.49% rated as clinically significant), in which 53% reported 2 or more disturbances, with sleepless (10%), depression (8.9%) and anxiety (6.97%) being the most common.</p><p><b>CONCLUSION</b>To our knowledge, this was the first multi-center study on neuropsychiatric disturbances in dementia and cognitive normal elderly people. Neuropsychiatric symptoms occurred mainly in persons with dementia and of clinical severity. Though the neuropsychiatric disturbances reported in cognitive normal individuals were lower and less serious compared to dementia, they should not be neglected. These finding suggested that a screening programme focusing on identifying these symptoms should be included in the physician's diagnostic tools for dementia.</p>

The mutation V781I in SCN4A gene exists in Chinese patients with normokalemic periodic paralysis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>In this report are reviewed two unrelated patients with typical normokalemic periodic paralysis (normoKPP) features and the results of screening the SCN4A gene for the disease-related mutation.</p><p><b>METHODS</b>Two sporadic cases with normoKPP were screened for previously known mutations in SCN4A gene (T704M, A1156T, M1360V, I1495F, M1592V) that lead to hyperKPP; denaturing high performance liquid chromatography (DHPLC) was used. Then the rest exons of SCN4A gene were screened by DHPLC, and sequence analysis was performed on those with DHPLC chromatogram variation when compared with unaffected control.</p><p><b>RESULTS</b>Two cases and one patient's father were detected with V781I, which was proved to be a singular missense mutation in SCN4A gene.</p><p><b>CONCLUSION</b>The mutation V781I exists in Chinese patients with normoKPP and may be responsible for normoKPP.</p>

Differential acetylcholine and choline concentrations in the cerebrospinal fluid of patients with Alzheimer's disease and vascular dementia / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>An important aspect of Alzheimer's disease (AD) is loss or impairment of cholinergic neurons. It is controversial whether there is a similar cholinergic impairment and cerebral deficit of acetylcholine (ACh) in the case of vascular dementia (VD). The purpose of this study was to explore the levels of ACh and choline (Ch) in the cerebrospinal fluid (CSF) of patients with AD and VD, and their possible relationship with cognitive impairment.</p><p><b>METHODS</b>Twenty-two AD patients, twenty-two VD patients, and twenty normal controls were recruited and scored with a Mini-Mental State Examination (MMSE). CSF concentrations of ACh and Ch were measured using high-performance liquid chromatography with an electrochemical detector (HPLC-ECD) and the results were then compared to cognitive status.</p><p><b>RESULTS</b>ACh concentrations in CSF of AD patients [(10.7 +/- 5.1) nmol/L] and VD patients [(16.8 +/- 7.4) nmol/L] were both significantly lower than in controls [(34.5 +/- 9.0) nmol/L, t = 10.67, P < 0.001; t = 6.91, P < 0.001]. Both results correlated positively with MMSE scores (rs = 0.88 and rs = 0.85, respectively, P < 0.01). The CSF concentration of Ch was significantly higher in VD patients [(887.4 +/- 187.4) nmol/L] compared to AD patients [(627.6 +/- 145.1) nmol/L, t = 6.4, P < 0.001] and controls [(716.0 +/- 159.4) nmol/L, t = 4.2, P = 0.002]. CSF Ch concentration showed no difference between AD patients and normal controls, nor did it correlate with MMSE score in any of the three groups.</p><p><b>CONCLUSIONS</b>The positive correlation between ACh deficit and cognitive impairment suggests that ACh is an important neurotransmitter for memory. The similar decrease in ACh concentration in AD and VD patients may imply a similar pathogenesis for the process of cognitive impairment involved in these two disorders. The elevated CSF levels of Ch in VD patients compared to AD patients may be useful diagnostically. Cholinesterase inhibitors may be helpful not only for AD patients, but also for VD patients.</p>