Research progress of oculomotor disorder in Parkinson's disease / 中华神经科杂志

Parkinson's disease (PD) is a common neurodegenerative disease characterized by bradykinesia,resting tremor,muscle rigidity,and abnormal gait posture.Ocular motor function test plays an important part in neurological examinations.It has been widely accepted that specific ocular motor patterns contribute to diagnosis of Parkinsonian syndrome including progressive supranuclear palsy and multiple system atrophy.However,recent studies have shown that patients of PD may also exhibit specific eye movement disorders,which will be helpful in the early diagnosis,evaluation and differential diagnosis of PD.In 2015,the Movement Disorder Society clinical diagnostic criteria for Parkinson's disease suggested that sustained staring evoked nystagmus could be used as an exclusive criterion for PD.The clinical features,detection methods and clinical significance of oculomotor dysfunction in PD are reviewed in this article.

The clinical characteristics and risk factors of frozen gait in Parkinson's disease / 中国医师杂志

Objective o investigate the clinical characteristics and relevant risk factors of freezing gait in patients with Parkinson's disease (PD).Methods A total of 570 consecutive PD patients were registered basic information and evaluated by Unified Parkinson's Disease Rating Scale (UPDRS) and New Freezing of gait questionnaire (NFOG-Q).They were divided into the PD with freezing gait group (188 cases) and non-freezing gait group.Results UPDRS score in each part (UPDRS-Ⅰ,UPDRS-Ⅱ,UPDRS-Ⅲ,UPDRS-Ⅳ) and Hoehn & Yahr stage of the PD freezing gait group was significantly higher than that of the non frozen gait group (P ＜ 0.05).Conclusions PD patients with frozen gait group experience more rapid PD progression than those without freezing of gait.The appearance of FOG is associated with the mental behavior and emotion,treatment complication,disease severity,and course of PD.

Study on fatigue symptoms and related factors in Parkinson's disease patients / 中国医师杂志

Objective To investigate the prevalence of fatigue symptoms and investigate its related factors in patients with Parkinson's disease (PD).Methods The Parkinson's Fatigue Scale (PFS-16) was used to assess the fatigue status of 453 PD patients.These patients were divided into fatigue group (mean PFS-16≥3.3 defined as fatigue) and non-fatigue group.All of them completed the assessment of the relevant scale.Results Among 453 PD patients,there were 169 patients (37.3％) in fatigue group and 284 patients (62.7％) in non-fatigue group.Unified Parkinson's disease Rating Scale (UPDRS) and HoehnYahr (H-Y) staging in fatigue group were significantly higher than non-fatigue group (P ＜0.05).Motor symptoms,mental and emotional status and daily living ability are positively correlated with fatigue symptoms.Conclusions The motor symptoms and non-motor symptoms are more serious in PD patients with fatigue.The motor symptoms,mental and emotional status,daily living ability and Hoehn-Yahr (H-Y) stage are the main related factors of fatigue symptoms in PD patients.

Study on the clinical features and related factors of cognitive impairment in Parkinson's disease / 中国医师杂志

Objective To explore the correlated factors and clinical features of cognitive impariment in parkinson's disease (PD).Methods A total of 419 patients with PD were collected from Xiangya Hospital of Centre-South University during Mar 1st,2017 to Nov 30th,2017.The cognitive functions of patients were assessed with the Mini-Mental State Examination (MMSE),and the basic information and the motor symptoms of 419 PD patients were selected at the same time.The PD patients were classified into three groups according to the MMSE score:PD with no cognitive impairment (PD-NC),mild cognitive impairment in PD (PD-MCI),and Dementia in PD (PD-D).The data were analyzed by SPSS 20.0.Results There were 156 patients with PD-MCI (37.2％) and 64 patients with PD-D (15.3％).The difference of sex and disease duration among three groups were not statistically significant (P ＞ 0.05).The significant difference was found among PD-D,PD-MCI,and PD-NC groups in age of onset,age,educational attainment,Unified Parkinson's disease Rating Scale (UPDRS)-Ⅱ score,UPDRS-Ⅲ score and Hoehn-Yahr stage (P ＜ 0.05).There were significant differences among three groups in MMSE score and its items (P ＜ 0.01).Logistics regression analysis found that the age of onset,educational attainment,and Hoehn-Yahr stage were the risk factors of cognitive impairment in PD patients (P ＜ 0.05).Conclusions Cognitive impairment is common in PD patients,and it is relevant to the age of onset,educational attainment and the severity of illness of PD patients.

Analysis of body mass index changes in Parkinson's disease and its association with disease severity / 中国医师杂志

Objective To investigate the change of body mass index (BMI) in Parkinson's disease (PD) and its association with disease severity.Methods SPSS 22.0 was used for data analysis of one hundred and sixty-eight PD patients and one hundred and fifteen healthy controls.Results BMI value was obviously declined in PD (P =0.001).Decrease of BMI in PD was associated with increase of disease duration (r =-0.270,P =0.001),total score of Unified Parkinson~ Disease Rating Scale (UPDRS) (r =-0.195,P =0.008),score of UPDRS part Ⅱ (r =-0.147,P =0.045),score of UPDRS part Ⅲ (r =-0.159,P =0.030),H-Y grading (r =-0.256,P =0.001),and mini-mental state examination (MMSE) (r =0.291,P =O.001).Conclusions BMI declines more obviously in PD patients than in healthy controls.PD Patients with longer disease duration and severe motor symptoms have a higher risk of BMI loss.

Study on the clinical features and related factors of constipation in patients with Parkinson's disease / 中国医师杂志

Objective To investigate the clinical features of constipation in patients with Parkinson 's disease (PD) and explore the relationship between constipation and motor symptoms.Methods The data of 221 PD patients were collected.Patients were evaluated with following scales:Rome Ⅲ criteria for diagnosis of functional constipation,unified Parkinson's disease rating scale part Ⅲ (UPDRS Ⅲ),and simple mental status examination scale (MMSE).Results Among 221 PD patients,132 (59.7％) had constipation,and 48 (36.4％) experienced constipation before motor symptoms.Compared to those without constipation,PD patients with constipation had a higher UPDRS Ⅲ scores,posture/gait scores,and axis scores (P ＜ O.05).The most common symptoms of PD patients with constipation were defecation straining (93.9％).Conclusions PD patients with constipation have severer motor symptoms than those without constipation.Defecation straining is the most common subtypes of PD patients with constipation.

Progress in genetic research on essential tremor / 中华医学遗传学杂志

Essential tremor (ET) is one of the most common movement disorders. Its clinical manifestations not only include typical kinetic and/or postural tremors, but also other non-motor symptoms such as cognitive dysfunction, sleep disturbance, and dysosmia. The exact etiology and pathogenesis of ET is still unknown. Approximately 60% of ET patients have a family history, and genetic factor plays an important role in the onset of the disease. Researchers have so far identified 3 genetic loci (ETM 1-3) through family studies, and proposed additional causative genes such as FUS, HTRA2, TENM4, NOS3 and susceptibility genes such as LINGO, SLC1A2, and GABA. This review focuses on the progress made in genetic research on ET.

L10P mutation in DJ-1 gene induced oxidative stress and mitochondrial disfunction / 中南大学学报(医学版)

OBJECTIVE@#To investigate the effect of the L10P mutation on the cellular mitochondrial disfunction.@*METHODS@#Spectrophotometer, flow cytometry and electron microscope was utilized to examine cell viability, reactive oxygen species (ROS), mitochondrial transmembrane potential, complex I activity and mitochondrial morphous of the HEK293 monoclone cell lines, in which wild-type and L10P mutant DJ-1 protein are stably expressed.@*RESULTS@#Compared with the cell lines expressing empty vector, we found the ROS levels were elevated, the cell viability, mitochondrial transmembrane potential, complex I activity were reduced in the cells expressing L10P mutant DJ-1 protein (P<0.05). We also found mitochondria in these cells were swelling and some mitochondria were vacuolar degeneration. These phenomena were more obvious when rotenone was used. But in the cells expressing wild-type DJ-1, ROS levels were lower, the cell viability, mitochondrial transmembrane potential, and complex I activity were higher than other cell lines (P<0.05), especially under the induction of rotenone. These results suggested that L10P mutant DJ-1 protein probably lost the ability of anti-oxidative stress and affect the normal function of mitochondria.@*CONCLUSION@#The L10P DJ-1 mutation results in a toxic protein, which lacks the protective function of wild-type protein on mitochondria due to the decrease in the ability of anti-oxidative stress.

Genetic analysis of P387L mutation in SLC18A2 gene in sporadic Parkinson's disease in Chinese Han population / 中南大学学报(医学版)

OBJECTIVE@#To investigate whether the mutation of P387L in SLC18A2 gene is a cause for sporadic Parkinson's disease (PD) in Chinese Han population.
@*METHODS@#A total of 931 subjects (455 sporadic PD patients and 476 healthy controls) were enrolled in our study. SLC18A2 P387L was genotyped by matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry (MALDI-TOF MS) and the results were verified by Sanger sequencing. Furthermore, a case-control study was used to investigate the relationship between the mutation and sporadic PD.
@*RESULTS@#There was no mutation in any of the 931 individuals.
@*CONCLUSION@#The P387L mutation in SLC18A2 gene is rare in Chinese Han population, and P387L might not be a cause for Chinese sporadic PD. However, the role of this mutation in PD needs to be further verified through replication studies with large number of subjects and different population.

Expression profiles of genes in wild-type DJ-1 and A39S DJ-1 mutant cells / 中南大学学报(医学版)

Objective: To elucidate the role of A39S mutation of DJ-1 in the onset of Parkinson’s disease (PD) and identify genes for which expressions are abnormally regulated by A39S DJ-1 mutation. Methods: We established HEK293 cell lines which stably expressed empty vector, wild-type DJ-1 and A39S mutated DJ-1 respectively. DNA microarrays were used to identify genes for which expressions change in wild-type DJ-1 cells and A39S DJ-1 mutant cells. Results: Compared with the cell line expression empty vector, we identified 42 differentially regulated genes (including 14 up-regulated genes and 28 down-regulated genes) in the wild-type DJ-1 cells and 8 differentially regulated genes (including 6 up-regulated genes and 2 down-regulated genes) in the A39S DJ-1 mutant cells. Compared with the wild-type DJ-1 cells, only the expression of UGT2B7 gene was down-regulated in A39S DJ-1 mutant cells. hTese differentially regulated genes were mainly related to signal transduction, regulation of transcription, apoptosis and metabolism. Conclusion: A39S mutated DJ-1 may disturb the transcriptional activities of DJ-l and involve in the pathogenesis of PD.

Establishment of transgenic mouse models expressing human HSP22 protein / 中华老年医学杂志

Objective To establish transgenic mouse models expressing human HSP22 protein.Methods pCAGGS-HA-Wt HSP22 transgenic expressing vector carrying human HSP22 gene was constructed by gene recombination technology.The linearized DNA was got by SalI、Hind Ⅲ and BsaⅪ digestion of PCAGGS-HA-Wt HSP22,purified and microinjected into fertilized eggs from C57BL mice.The tail DNA of pups was tested by PCR and DNA sequencing.Expression of human HSP22 protein was detected by western blot with anti-HA tag monoclonal antibody.Results 4 transgenic founder mice (Tg646,Tg648,Tg649,Tg661) carrying human HSP22 gene were identified by PCR and DNA sequencing.The human HSP22 protein was expressed in the lines Tg646,Tg648 and Tg649 founder mice,but was not expressed in the line Tg661 founder mouse.Conclusions The mouse models expressing human HSP22 protein are established successfully and provide the foundation for HSP22 gene research in vivo.

Mutation analysis of microRNA-7 gene in Chinese patients with Parkinson's disease / 中南大学学报(医学版)

OBJECTIVE@#To investigate the mutation of small sequence changes in microRNA-7 gene in Chinese patients with Parkinson's disease (PD).@*METHODS@#We analyzed miR-7 variants in 225 PD patients from Chinese Han group by DNA sequence.@*RESULTS@#None of the patients had miR-7 variants.@*CONCLUSION@#MiR-7 variation is not associated with PD in Chinese patients.

Analyses of clinical and genetic characteristics of 179 patients with hereditary spastic paraplegia / 中华神经科杂志

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".

Analysis of parkin gene mutations in Han Chinese with sporadic early-onset parkinsonism in southern China / 中华神经科杂志

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.

DJ-1 gene rearrangement mutation in patients with autosomal recessive early-onset parkinsonism using real-time PCR / 中南大学学报(医学版)

OBJECTIVE@#To establish a technique platform of DJ-1 gene exon rearrangement using real-time PCR and to analyze DJ-1 gene exon rearrangement mutation in patients with autosomal recessive early-onset Parkinsonism(AREP).@*METHODS@#Real-time PCR was used to analyze DJ-1 gene exon rearrangement mutation in 22 probands with AREP from unrelated Chinese Han families and 30 normal controls.@*RESULTS@#We obtained satisfactory real-time PCR reaction conditions and primers of DJ-1 gene coding exons No exon rearrangement mutation in the DJ-1 gene is detected in this group.@*CONCLUSION@#We established platform of DJ-1 gene exon rearrangement using real-time PCR. Exon rearrangement mutation in the DJ-1 gene is rare in Chinese patients with AREP.

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy in Chinese Han population / 中华神经科杂志

Objective To assess the frequency of different subtype of spinocerebellar ataxias (SCAs) in Chinese Han population. Methods The nueleotide repeat mutations of SCA1, SCA2, SCA3/ MJD, SCA6, SCAT, SCA8, SCA10, SCA12, SCA17 and dentatorubral-pallidoluysian atrophy (DRPLA) were detected by the polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis (PAGE), Southern blot, recombinant DNA technology by T-vector cloning and direct sequencing technique in a cohort of 559 Mainland Chinese patients affected by spinocerebellar ataxia, including 363 families with autosomal dominant SCA (AD-SCA) and 196 sporadic cases. Results Among the 363 AD-SCA families, 15 families (4. 13%) were positive for SCA1, 26 (7. 16%) for SCA2, 187 (51.52%) for SCA3/MJD, 6 (1.65%) for SCA6, 7 (1.93%) for SCA7, 1 (0. 28%) for SCA12 and 1 (0. 28%) positive for SCA17; 120(33. 06%) were negative for all the tested SCAs. There were 2 (1.02%) SCAI, 3 (1.53%) SCA2, 15 (7. 65%) SCA3/MJD, 3 (1.53%) SCA6 and 173 (88.27%) not identified in the 196 sporadic SCA patients. None of the SCA8, SCA10 and DRPLA mutation was found. Conclusions SCA3/MJD is a substantially common subtype of AD-SCAs and sporadic SCA in Chinese Han patients with SCAs, subsequently followed by SCA2, SCA1, SCAT and SCA6; SCA12 and SCA17 are uncommon subtypes, while SCA8, SCA10, and DRPLA are rare, if not absent. SCA17 subtype was initially identified in mailand China. Some other genes might be causative in those unidentified AD-SCA pedigrees, and other etiological factors besides genetic cause might contribute for those sporadic cases.

Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the CAG trinucleotide repeat expansion in spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7, 12, and 17 from Chinese Han.</p><p><b>METHODS</b>The pathological CAG triplet repeat expansions of the SCA1, SCA2, SCA3/Machado-Joseph disease (MJD), SCA6, SCA7, SCA12 and SCA17 genes were analyzed in a cohort of 559 Mainland Chinese patients affected by spinocerebellar ataxia, including 363 probands from families with autosomal dominant SCA and 196 sporadic cases. Polymerase chain reaction, agarose gel electrophoresis, recombinant DNA technology by T-vector cloning and direct sequencing were performed to detect the CAG-repeat number of abnormal allele.</p><p><b>RESULTS</b>Among the 559 SCA patients, twenty-three were positive for SCA1, the ranges of expanded CAG repeats were from 39 to 60 (mean:51.09+/-4.88); thirty-two were positive for SCA2, the ranges of expanded CAG repeats were from 36 to 51 (mean:40.34+/-4.40); three hundred and five were positive for SCA3/MJD, the ranges of expanded CAG repeats were from 49 to 86 (mean:73.84+/-5.07); nine were positive for SCA6, the ranges of expanded CAG repeats were from 23 to 29 (mean:25.56+/-1.94); twenty-seven were positive for SCA7, the ranges of expanded CAG repeats were from 38 to 71(mean:58.22+/-10.90); three were positive for SCA12, the ranges of expanded CAG repeats were from 51 to 52 (mean:51.33+/-0.58); and finally, two were positive for SCA17, the range of expanded CAG repeats were from 53 to 55 (mean:54.00+/-1.41).</p><p><b>CONCLUSION</b>The 39 CAG repeats of SCA1, 49 CAG repeats of SCA3 and 51 CAG repeats of SCA12 are all the shortest known causative expanded alleles, while the 86 CAG repeats of SCA3/MJD is the largest full expanded allele that has never been reported. Furthermore, it is the first report of SCA17 subtype in Mainland Chinese and first research that established the abnormal reference standard of CAG repeat number of different subtypes of SCA in Chinese Han.</p>

Studies on the CTA/CTG trinucleotide repeats of ATXN8OS gene in Chinese Hans / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the normal range of (CTA/CTG)n repeats of ATXN8OS gene in Chinese Hans, and the frequency of ATXN8OS (CTA/CTG)n repeat expansion in spinocerebellar ataxia(SCA) patients in Mainland China.</p><p><b>METHODS</b>The (CTA/CTG)n repeats of ATXN8OS gene were detected using fluorescence-PCR, 8% denaturing polyacrylamide gel and capillary electrophoresis technique in 132 SCA patients in whom CAG expansion at the SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, SCA17 and dentatorubral-pallidoluysian atrophy(DRPLA) loci has been excluded, and 261 healthy controls.</p><p><b>RESULTS</b>There were no obvious abnormal changes of the (CTA/CTG)n repeats of ATXN8OS gene in the 132 SCA patients. Thirty-five SCA patients were homozygotes (26.5%), and the range of CTA/CTG repeat number was 17 to 47 (24.20+/-4.57), among which 18 repeats appeared most frequently. In 261 normal controls, 70 were homozygotes (26.8%), and the range of the CTA/CTG repeat number was from 12 to 43 (24.04+/-4.53), among which 18 repeats was the most frequent.</p><p><b>CONCLUSION</b>SCA8 is a rare subtype of SCA in Mainland China. The low prevalence of SCA8 seems to be correlated with the low frequency of large (CTA/CTG)n copy number alleles in Chinese population.</p>

Chronic nicotine induces the changes of locomotor activities in rats by increasing the mRNA levels of dopamine D1 receptor in striatum / 中国组织工程研究

BACKGROUND: Nicotine, which is a known central nervous system stimulant, appears to be the neuroprotective factor of Parkinson disease(PD). It has been reported that PD patients' symptoms such as trembling,rigor, hypokinesia are ameliorated during smoking, but its mechanism still keeps unclear.OBJECTIVE: To observe the effects of nicotine on gene expression levels of dopamine D1 and D2 receptors (D1R,D2R)in striatum of rats and analyze the possible mechanism of behavioral changes of rats induced by nicotine.DESIGN:Randomized and controlled experiment.SETTING:Institute of Neurology, Xiangya Hospital, Central South University.MATERIALS :Twenty-four SD rats aged at 10 weeks were chosen,weighing 180-200 g. Nicotine (Sigma),revert AidTM M-Mulv reverse transcriptase (MBI Fermentas,USA), polymerase chain reaction (RCR,Beckman),densitometric scanning imaging system (Stratagene Eagle Eye Ⅱ ,USA).METHODS :This experiment was carried out in the Laboratory of Institute of Neurology, Xiangya Hospital,Central South University from July 2001 to July 2002. These rats were divided into two groups: control group (n=12)and nicotine group(n=12). The level of D1 and D2 receptors on striatum of rats was estimated at the timepoint of thirty-minute after chronic nicotine administration (4 mg/kg per day s.c.), and the behavioral activities were also recorded at the same timepoint for thirty minutes. The functional behavioral activities recorded included: rearing up repeatedly, moving about, provoking, climbing, grooming, yawning, rotating, smelling and vomiting. At the fourteenth day, all rats were killed after thirty minutes of nicotine injection,the brains were dissected out and the region of striatum was separated immediately. Total RNA was extracted from striatum by RNeasy Total RNA Kit. PCR amplification was performed at special condition. For semi-quantitative analysis, 10 μ L of PCR products for each was examined by electrophoresis on 12 g/L agarose gel containing 0.5 mg/L ethidium bromide,and absorbance (A value) was quantitated by using densitometric scanning imaging system, thuse D1R,D2R mRNA expression were determined. Differences between means were analyzed with two-tailed student's t test.MAIN OUTCOME MEASURFS: Changes of locomotor activities and the gene mRNA expression levels of D1 R and D2R in the regions of striatum in rats.RESULTS: Totally 24 SD rats were involved in the final results.① Locomotor activities of rats become more active after 3-day nicotine administration and reach the top during 7-14 days.②The A value of total RNA ratio of A260/A280 ＞1.8, and the total RNA had no degradation with 12 g/L agarose gels electrophoresis. ③As expected, PCR amplification product lengths of D1R, D2R,βA were 350 bp, 399 bp, 218 bp respectively. A significant increase of 23% of D1R mRNA expression in the region of striatum detected in the nicotine group compared with that of control group (98.63±1.13 and 65.29±1.45 seperately,P ＜ 0.01), no difference was detected on the level of D2R mRNA expression in the same regions above (76.73±1.45 and 78.21±1.69 respectively ,P ＞ 0.05 ).CONCLUSION: Nicotine may induce changes of locomotor activities of rats by up-regulating D1R mRNA expression in striatum.

Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study pantothenate kinase 2 (PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome (HSS).</p><p><b>METHODS</b>PANK2 gene mutations were detected by PCR, DNA sequence analyses, restriction enzyme digestion and PCR-single strand conformation polymorphism in 5 patients, 3 unaffected family members and 51 unrelated healthy persons.</p><p><b>RESULTS</b>Novel compound heterozygous PANK2 gene mutations, A803G and T1172A, in exons 3 and 5, respectively, were found in one patient. At the same time, 3 types of single nucleotide polymorphisms, -38 t>a in 5'-UTR, IVS1+42 c>a and G77C in exon 1, were confirmed; among them, -38 t>a, IVS1+42 c>a, were first reported.</p><p><b>CONCLUSION</b>PANK2 gene mutations can cause HSS in Chinese patients.</p>