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1.
Phys Chem Chem Phys ; 25(36): 24298-24302, 2023 Sep 20.
Artículo en Inglés | MEDLINE | ID: mdl-37695725

RESUMEN

Herein, reversible K+ ion insertion into graphite in an aqueous electrolyte is illustrated. It is shown that more facile diffusion of K+ ions is possible in natural graphite than in pyrolytic graphite.

2.
Phys Chem Chem Phys ; 25(20): 13833-13837, 2023 May 24.
Artículo en Inglés | MEDLINE | ID: mdl-37162519

RESUMEN

In this work, we report the electrochemical reactivity of MoTe2 for various metal ions with special emphasis on Al3+ ion storage in aqueous electrolytes for the first time. A stable discharge capacity of 100 mA h g-1 over 250 cycles at a current density of 1 Ag-1 could be obtained for the Al3+ ion, whereas inferior storage capacities were shown for other metal ions.

3.
Phys Chem Chem Phys ; 23(35): 19150-19154, 2021 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-34486638

RESUMEN

Herein, we report the possibility of electrochemical Al3+ ion insertion in LiMn2O4 in aqueous electrolytes. LiMn2O4 exhibits a discharge potential plateau of 1.5 V and a discharge capacity of 65 mA h g-1 is achieved at a current rate of 800 mA g-1 at the 75th cycle with the pre-addition of low-valence Mn ions in an aqueous AlCl3 electrolyte.

4.
Indian J Med Res ; 151(6): 592-597, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32719233

RESUMEN

Background & objectives: Parkinsonian disorder, including Parkinson's disease (PD), is an aetiologically complex neurodegenerative disorder. Mutations in leucine-rich repeat kinase 2 (LRRK2) gene have been implicated in an autosomal dominant form of PD with variable penetrance. The identification of a common LRRK2 variant (p.Gly2019Ser) in dementia with Lewy bodies indicated its potential role in Parkinsonian disorder. The current study was aimed to identify the p.Gly2019Ser variant in Indian patients with Parkinsonian disorder. Methods: The patient group consisting of 412 classical PD patients, 107 PD patients with cognitive impairment, 107 patients with Parkinson plus syndrome and 200 unrelated controls were recruited from eastern part of India. The allele representing p.Gly2019Ser variant was screened by polymerase chain reaction followed by restriction fragment length polymorphism analysis. Results: The p.Gly2019Ser variant was identified in an East Indian young-onset female PD patient in a heterozygous state having several motor and autonomic problems without disturbed cognition. Her younger brother, sister and elder son harbouring the same mutation were asymptomatic carriers for the variant. However, the influence of DNM3 on decreased disease onset in this family was not clear. Interpretation & conclusions: Identification of the p.Gly2019Ser variant in only one patient among a large number of Indian patients (n=626) with Parkinsonian disorder in our study suggests a limited role of the LRRK2 variant towards disease pathogenesis.


Asunto(s)
Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/genética , Enfermedad de Parkinson , Adulto , Femenino , Predisposición Genética a la Enfermedad , Historia del Siglo XVI , Humanos , India/epidemiología , Masculino , Persona de Mediana Edad , Mutación , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/genética , Penetrancia
5.
Ann Hum Genet ; 82(2): 53-59, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29059476

RESUMEN

Wilson disease (WD) is an autosomal-recessive disorder caused by mutations in the ATP7B gene leading to abnormal copper deposition in liver and brain. WD manifests diverse neurological and hepatic phenotypes and different age of onset, even among the siblings, with same mutational background suggesting complex nature of the disease and involvement of other candidate genes. In that context, Apolipoprotein E (APOE) and Prion Protein (PRNP) have been proposed to be potential candidates for modifying the WD phenotype and age of onset. This study aims to identify the contribution of APOE and PRNP polymorphisms on the variable phenotypic expression of Indian WD patients. A total of 171 WD patients and 291 controls from Indian population were included in this study. Two APOE cSNPs (rs429358 and rs7412) resulting in three isoforms and M129V (rs1799990) polymorphism of PRNP were examined for their association with WD and its clinical phenotypes. The APOE ԑ4 allele was found to be significantly overrepresented in WD patients compared to controls. However, the frequency of the APOE ԑ3 allele and ԑ3/ԑ3 genotype was significantly higher in WD patients without cognitive behavior impairment compared to the ones with the impairment. On the contrary, the PRNP allele representing Val129 was found to be present in higher proportion in WD patients with cognitive behavioral decline. Our data suggest that the APOE ԑ4 allele could act as a potential risk for the pathogenesis of WD. Also, APOE and PRNP might contribute toward the cognitive behavioral decline in a section of WD patients.


Asunto(s)
Apolipoproteínas E/genética , Degeneración Hepatolenticular/genética , Polimorfismo de Nucleótido Simple , Adolescente , Adulto , Alelos , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , India , Masculino , Fenotipo , Proteínas Priónicas/genética , Adulto Joven
6.
Angew Chem Int Ed Engl ; 57(51): 16606-16617, 2018 Dec 17.
Artículo en Inglés | MEDLINE | ID: mdl-29566301

RESUMEN

The pairing of an aluminum anode with a cathode of high energy and power density determines the future of aluminum-ion battery technology. The question is-"Is there any suitable cathode material which is capable of storing sufficiently large amount of trivalent aluminum-ions at relatively higher operating potential?". Graphene emerges to be a fitting answer. Graphene emerged in the research arena of aluminum-ion battery merely three years ago. However, research progress in this front has since been tremendous. Outperforming all other known cathode materials, several remarkable breakthroughs have been made with graphene, in offering extraordinary energy density, power density, cycle life, thermal stability, safety and flexibility. The future of the Al-graphene couple is indeed bright. This Minireview highlights the electrochemical performances, advantages and challenges of using graphene as the cathode in aluminum-ion batteries in conjugation with chloroaluminate based electrolytes. Additionally, the complex mechanism of charge storage in graphene is also elaborated.

7.
Neurol India ; 65(6): 1280-1288, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29133701

RESUMEN

BACKGROUND: Headache is common in communities; however, epidemiological research regarding its prevalence is infrequent in India. AIM: We planned to study the prevalence of migraine, its disease burden, and the associated risk factors. SETTING AND DESIGN: This is an urban community study conducted in Kolkata with a cross-sectional and nested case-control design. MATERIALS AND METHODS: The criteria to study headache among a representative sample (aged 20-50 years) was based on the International Classification of Headache Disorders-II. Sex- and age-matched controls without headache were evaluated for putative risk factors. The disease burden was measured as disability adjusted life years (DALY). RESULTS: Screening of 2421 individuals revealed that the 1-year prevalence of migraine was 14.12%. Education, environmental exposure, travel, and oral contraceptives determine approximately 75% of the underlying risks. DALY showed maximum burden among women in the age range of between 30 and 34 years. CONCLUSION: The community-based prevalence of migraine in India is similar to that observed in other countries except Africa. The burden was maximum among women. The risk factors responsible for migraine should be addressed and institution of public health measures are warranted.


Asunto(s)
Cefalea/epidemiología , Cefalea/terapia , Trastornos Migrañosos/epidemiología , Trastornos Migrañosos/terapia , Adulto , Estudios de Casos y Controles , Estudios Transversales , Femenino , Humanos , India/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Factores de Riesgo , Adulto Joven
8.
Dalton Trans ; 53(3): 898-902, 2024 Jan 16.
Artículo en Inglés | MEDLINE | ID: mdl-38167683

RESUMEN

We report the electrochemistry of Al3+ ion storage in copper tetrathiovanadate (Cu3VS4) in an aqueous electrolyte for the first time. It is found that Cu3VS4 could deliver an initial discharge capacity of 111 mA h g-1 at a current rate of 0.5 A g-1 and 77 mA h g-1 up to the 300th cycle at 2 A g-1 along with an excellent rate capability. The better electrochemical performance may be attributed to the high theoretical capacity of sulfur and the superior conductivity of copper which allows facile Al3+ ion diffusion in Cu3VS4. The electrochemical mechanism of Al3+ ion storage is also illustrated.

9.
J Neural Transm (Vienna) ; 119(11): 1343-50, 2012 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-22373569

RESUMEN

The aim of this study is to examine the role of GCH1 among Indians affected with dopa responsive dystonia (DRD) and early onset Parkinson's disease (EOPD). The patients (n = 76 including 19 DRD and 36 EOPD) and controls (n = 138) were screened for variants in GCH1 by PCR amplification of exons, splice junctions and 1 kb upstream region followed by SSCP and DNA sequencing. Four novel variants (p.Met1Val, p.Val204_205del, IVS3+68A>G, and IVS5-6T>G) were identified in 10 patients but not in the controls. In addition to two nonsynonymous changes, identified in four DRD patients in heterozygous condition, one intronic variant (IVS5-6T>G) could be linked to pathogenesis of the disease since it has the potential of altering the splice site as assessed by in silico analysis. Patients carrying different nonsynonymous variants had remarkable variation in clinical phenotype. Consistent with earlier reports, severity of clinical phenotype and the age of onset varied among family members harboring the same mutation. No mutation was detected in the EOPD patients. Three novel mutations in GCH1 gene have been found and are shown to be associated with variable clinical phenotypes mostly within the spectrum of DRD. The mutations identified represent 15.79% (3/19) of east Indian DRD patient cohort.


Asunto(s)
Distonía/genética , GTP Ciclohidrolasa/genética , Predisposición Genética a la Enfermedad/genética , Mutación/genética , Adulto , Pueblo Asiatico/genética , Análisis Mutacional de ADN , Dopaminérgicos/uso terapéutico , Distonía/tratamiento farmacológico , Salud de la Familia , Femenino , Humanos , India , Levodopa/uso terapéutico , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/tratamiento farmacológico , Enfermedad de Parkinson/genética
10.
Neurol India ; 60(6): 618-24, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23287325

RESUMEN

As per the estimates of the World Health Organization, aging population is increasing in developing countries and dementia is going to become epidemic among elderly in the coming decades. This demands early action to prevent the disease and treatment of the affected persons, which is poorly existent in middle- and low-income countries. The need of the hour to tackle dementia in India is to estimate disease burden in the community, search for risk and protective factors of dementia, and undertake measures to provide social benefits to the sufferers and those who are at risk. Raising awareness among the public and general physicians is an important task ahead. In India, there is lack of good longitudinal studies which can provide true trend of the disease and determine risk factors, paucity of basic and clinical researches on dementia, poor awareness, and inadequate availability of social benefit. India, being a country of diverse ethnicity and cultures, has great advantages to carry out genetic epidemiological study. The information may be useful for undertaking remedial measure. This article will highlight the existing state of the above medical and social issues and deficiencies, so that the stakeholders can make adequate preparation to provide relief to the dementia patients and those who are at risk. It is expected that the medical and scientific community will draw attention to the medical problem with the help of governmental and non-governmental agencies, and the political leadership will be motivated to undertake the issue of providing socioeconomic benefit to families of the victims.


Asunto(s)
Demencia/epidemiología , Cuidadores/psicología , Demencia/patología , Demencia/fisiopatología , Demencia/psicología , Humanos , India/epidemiología , Neuroimagen
11.
Neurol India ; 69(2): 461-465, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33904476

RESUMEN

BACKGROUND: Parkinson's disease (PD) is a multifaceted illness affecting ~ 0.3% of the world population. The genetic complexity of PD has not been, fully elucidated. Several studies suggest that mitochondrial DNA variants are associated with PD. OBJECTIVE: Here, we have explored the possibility of genetic association between mitochondrial haplogroups as well as three independent SNPs with PD in a representative east Indian population. METHODS AND MATERIAL: The Asian mtDNA haplogroups: M, N, R, B, D, M7, and 3 other SNPs: 4336 T/C, 9055 G/A, 13708 G/A were genotyped in 100 sporadic PD patients and 100 matched controls via conventional PCR-RFLP-sequencing approach. RESULTS: The distribution of mtDNA haplogroups, as well as 3 single polymorphisms, did not show any significant differences (P > 0.05) between patients and controls. CONCLUSION: This is the first of its kind of study from India that suggests no association of selected mitochondrial DNA variations with PD.


Asunto(s)
ADN Mitocondrial , Enfermedad de Parkinson , Pueblo Asiatico , ADN Mitocondrial/genética , Genotipo , Haplotipos , Humanos , India , Enfermedad de Parkinson/genética , Polimorfismo de Nucleótido Simple/genética
12.
Neurosci Lett ; 751: 135816, 2021 04 23.
Artículo en Inglés | MEDLINE | ID: mdl-33711404

RESUMEN

INTRODUCTION: GBA mutations have been reported in PD, PDD and DLB - but not associated with cognitive impairment for example in PSP, AD or MSA. However, frequencies of GBA mutations are ethnicity dependent. The present study aims to identify commonly reported GBA mutations (mostly from Asia), among eastern Indian patients with neurodegenerative disorders. METHODS: The patient cohort consisting of 198 classical PD cases, 136 PD cases with cognitive impairment, 184 cases with Parkinson Plus syndrome, 46 AD and 241 unrelated controls, from eastern India. Subjects were analyzed for IVS2 + 1A > G, p.Arg120Trp, p.His255Gln, p.Arg257Gln, p.Glu326Lys, p.Asn370Ser, p.Asp409His, p.Leu444Pro, & RecNciI by PCR-RFLP techniques and confirmed by Sanger sequencing method. RESULTS: We have identified only p.Leu444Pro variant among nine cases; three PDD, one DLB, two PD, two PSP and one AD patients in heterozygous condition. The highest frequency for p.Leu444Pro variant was found among PDD subgroup (3.95 %, P = 0.0134). An overall significant overrepresentation of positive family history (P = 0.000049), impaired recent memory (P = 0.0123) was observed among p.Leu444Pro carriers. Further, subgroup analysis for PD, PD-MCI and PDD, revealed statistically significant higher frequency of early age at onset (P = 0.0455), positive family history (P = 0.0025), higher UPDRS III score (off state) (P = 0.006), advanced H&Y stage (P = 0.045) and anxious behaviour (P = 0.0124) among p.Leu444Pro positive patients. CONCLUSION: The p.Leu444Pro mutation of GBA was found in patients with PD, PDD, DLB, PSP and AD. An Overall higher frequency of positive family history and impaired recent memory are significantly associated with for p.Leu444Pro carriers from eastern India. Our study also ascertains contribution of p.Leu444Pro to an earlier onset of PD, PD-MCI and PDD, higher UPDRS III score (off state) against positive family history background. Furthermore, taking into consideration other Indian studies, we can conclude that p.Leu444Pro mutation plays a limited role in PD and other neurodegenerative disorders.


Asunto(s)
Demencia/genética , Glucosilceramidasa/genética , Mutación Missense , Trastornos Parkinsonianos/genética , Adulto , Anciano , Femenino , Frecuencia de los Genes , Humanos , India , Masculino , Persona de Mediana Edad
13.
Behav Brain Funct ; 6: 33, 2010 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-20550661

RESUMEN

Wilson disease (WD) results from accumulation of copper and caused due to mutations in ATP7B, a copper transporting ATPase. Besides regular hepatic and neurological symptoms, WD patients occasionally manifest atypical symptoms due to unknown cause. To understand the molecular etiology of atypical WD manifestations, we screened COMMD1, a gene implicated in canine copper toxicosis, in 109 WD patients including those with atypical symptoms. In a patient showing apoptotic symptoms and high urinary copper surpassing normal WD levels, we identified a novel, putative mutation in COMMD1. Two other changes were also identified in the gene. We have examined genotype-phenotype correlation between the detected changes and the atypical presentation of the WD patient.


Asunto(s)
Apoptosis , Proteínas Portadoras/genética , Cobre/orina , Degeneración Hepatolenticular/genética , Degeneración Hepatolenticular/patología , Mutación Missense , Proteínas Adaptadoras Transductoras de Señales , Secuencia de Bases , Niño , Familia , Estudios de Asociación Genética , Degeneración Hepatolenticular/orina , Humanos , Masculino , Fenotipo , Mutación Puntual , Análisis de Secuencia de ADN
14.
Dalton Trans ; 48(19): 6337-6340, 2019 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-30984968

RESUMEN

Can electrochemical Al3+ ions be reversibly intercalated in tungsten trioxide (WO3) in aqueous electrolytes? Here, we address this particular question and demystify that Al3+ ions can indeed be intercalated and deintercalated in WO3 in certain Al3+ ion conducting aqueous electrolytes.

15.
Neuromolecular Med ; 21(3): 287-294, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31134487

RESUMEN

Parkinson's disease (PD) is a progressive neurodegenerative disease with complex etiology. Both genetic and environmental factors play significant role. Apart from candidate genes, some modifier genes have been reported to be associated with the altered risk of PD. Previous studies have identified Apolipoprotein E (APOE), Cathepsin D (CTSD), and Brain-Derived Neurotrophic Factor (BDNF) as key players of neurodegenerative pathways with their variants associated with different neurodegenerative diseases. Hence, this study aims to identify the potential role of these modifier genes in the pathogenesis of PD among Eastern Indian PD patients. A case-control study was performed using 302 clinically diagnosed PD patients and 304 ethnically matched controls. Promoter SNPs of APOE (rs449647, rs405509) and BDNF (rs56164415), and coding SNPs of APOE (rs429358, rs7412 resulting in ε2, ε3, and ε4 alleles), CTSD (rs17571), and BDNF (rs6265) were analyzed by PCR-RFLP and bidirectional sequencing. The effect of rs56164415 on BDNF expression was characterized by Luciferase assay. APOEε4 allele was significantly overrepresented (p value = 0.0003) among PD patients, whereas ε3 allele was predominant in the control population. The promoter haplotype (A-rs449647, G-rs405509) of APOE was preponderant among female PD patients posing risk. No association was found for CTSD polymorphism. The 'T/T' genotype of BDNF rs56164415 was overrepresented (p-value = 0.02) among early onset PD patients. Expression of BDNF for the 'T/T' variant was significantly lower (p-value = 0.012) than the 'C/C' variant, suggesting a possible role in PD pathogenesis. This study suggests that APOE and BDNF may serve as modifier loci among eastern Indian PD patients.


Asunto(s)
Apolipoproteínas E/fisiología , Factor Neurotrófico Derivado del Encéfalo/fisiología , Catepsina D/fisiología , Enfermedad de Parkinson/genética , Adolescente , Adulto , Edad de Inicio , Anciano , Alelos , Estudios de Casos y Controles , Niño , Femenino , Frecuencia de los Genes , Genotipo , Humanos , India/epidemiología , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/metabolismo , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Isoformas de Proteínas/genética , Isoformas de Proteínas/fisiología , Adulto Joven
16.
Neurol India ; 67(2): 433-438, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31085855

RESUMEN

BACKGROUND: Frontal assessment battery (FAB) was devised as a specific study design to assess frontal lobe dysfunction. Since Parkinson's disease (PD) is often associated with cognitive and other higher mental function complications, FAB test has been carried out by a number of workers to assess the integrity of the frontal lobe. On the other hand, the other frequently conducted test, performed in order to evaluate the mental status, is the Mini Mental State examination of Folstein (MMSE), but its reliability has been questioned in PD, since it does not assess the functions of the frontal lobe alone. MATERIAL AND METHODS: The present study was undertaken in order to assess the suitability of application of the FAB test in Indian patients and to perform its comparative analysis with the MMSE scale. RESULTS AND CONCLUSIONS: It was observed that the FAB test correlated with the age and the level of education of the patient. The results also correlated with that of the MMSE study, in spite of the fact that the latter is not considered to be a test which can assess exclusively the status of the frontal lobe. To the best of our knowledge, this is first study undertaken in India in this regard.


Asunto(s)
Trastornos del Conocimiento/cirugía , Lóbulo Frontal/cirugía , Enfermedad de Parkinson/cirugía , Anciano , Trastornos del Conocimiento/diagnóstico , Femenino , Humanos , India , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/diagnóstico , Reproducibilidad de los Resultados , Resultado del Tratamiento
17.
Neurosci Lett ; 675: 68-73, 2018 05 14.
Artículo en Inglés | MEDLINE | ID: mdl-29604408

RESUMEN

BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disease and has a complex etiology. Single nucleotide polymorphisms in the 3'-untranslated region of Fibroblast growth factor 20 (FGF 20) have been reported to be associated with PD; however, the results are controversial. Although FGF20 enhances the survival of dopaminergic neurons, it may also result in PD susceptibility by altering alpha-synuclein expression. MATERIALS AND METHODS: To identify and characterize genetic risk variants in FGF 20 in Eastern Indian PD patients, 2 SNPs of FGF 20 (rs1721100 and rs2720208) were genotyped in 336 PD cases and 313 ethnically matched controls by PCR-RFLP. RESULTS: We observed statistically significant differences in genotypic and allelic frequencies of rs1721100 between PD cases and controls but not for rs12720208. Haplotype G-C showed a significant protective effect against PD. A functional assay revealed that the risk allele C at rs1721100 has little or no effect on relative luciferase activity from a reporter construct in the presence of miR-3189-3p, whereas allele G results in significant dose-dependent reduction. CONCLUSION: Our results suggest that FGF 20 is a susceptibility gene for PD in Eastern Indians.


Asunto(s)
Factores de Crecimiento de Fibroblastos/genética , Enfermedad de Parkinson/genética , Regiones no Traducidas 3' , Adulto , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Variación Genética , Haplotipos , Humanos , India , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Factores de Riesgo
18.
Stroke ; 38(3): 906-10, 2007 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-17272773

RESUMEN

BACKGROUND AND PURPOSE: Information on essential stroke parameters are lacking in India. This population-based study on stroke disorder was undertaken in the city of Kolkata, India, to determine the subtypes, prevalence, incidence, and case fatality rates of stroke. METHODS: This was a longitudinal descriptive study comprising 2-stage door-to-door survey of a stratified randomly selected sample of the city population, conducted twice per year for 2 successive years from March 2003 to February 2005. RESULTS: Out of the screened population of 52,377 (27 626 men, 24 751 women), the age standardized prevalence rate of stroke to world standard population is 545.10 (95% CI, 479.86 to 617.05) per 100,000 persons. The age standardized average annual incidence rate to world standard population of first-ever-in-a-lifetime stroke is 145.30 (95% CI, 120.39 to 174.74) per 100,000 persons per year. Thirty-day case fatality rate is 41.08% (95% CI, 30.66 to 53.80). Women have higher incidence and case fatality rates. Despite divergence on socioeconomic status between the slum and nonslum dwellers, stroke parameters were not significantly different. CONCLUSIONS: The age standardized prevalence and incidence rates of stroke in this study are similar to or higher than many Western nations. The overall case fatality rate is among the highest category of stroke fatality in the world. The women have higher incidence and case fatality rates compared with men.


Asunto(s)
Características de la Residencia , Accidente Cerebrovascular/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , India/epidemiología , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Accidente Cerebrovascular/diagnóstico
19.
Int Rev Neurobiol ; 134: 1443-1459, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28805579

RESUMEN

Wilson disease (WD) is an autosomal genetic disorder characterized by excessive copper deposition initially in liver (hepatic variant) followed by brain (neuropsychiatric variant) and other organs such as cornea and kidney due to defect in biliary copper excretion. Predominant presentations of neuropsychiatric variant are extrapyramidal motor dysfunctions such as dystonias, Parkinsonism, choreoathetosis, tremor, and ataxias. Nonmotor symptoms (NMS) can appear before clinical disease expression and during ongoing disease process. NMS may cause confusion and delay in clinical diagnosis. In the early stage, presence of asymptomatic or symptomatic evidence of acute or chronic liver disease with or without KF ring in young subjects against the background of family history of liver disease may be indicative of underlying WD. In WD, common NMS are personality disorders, mood changes, psychosis, cognitive abnormalities, sleep disorders, and autonomic disturbances besides few systemic dysfunctions. Cognitive changes can be diagnosed by neuropsychological assessment, MRI, and SPECT study of brain. Nonmotor manifestations can be managed by metal chelator, antipsychotic agents, mood stabilizers, rarely electroconvulsive therapy, and occasional hepatic transplantation.


Asunto(s)
Encéfalo/diagnóstico por imagen , Degeneración Hepatolenticular/diagnóstico por imagen , Degeneración Hepatolenticular/terapia , Hígado/diagnóstico por imagen , Encéfalo/metabolismo , Quelantes/uso terapéutico , Cobre/metabolismo , Degeneración Hepatolenticular/metabolismo , Humanos , Hígado/metabolismo , Trastornos Mentales/diagnóstico por imagen , Trastornos Mentales/metabolismo , Trastornos Mentales/terapia , Trastornos del Humor/diagnóstico por imagen , Trastornos del Humor/metabolismo , Trastornos del Humor/terapia
20.
Parkinsonism Relat Disord ; 12(7): 420-6, 2006 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-16793319

RESUMEN

Parkinson's disease (PD), the second most common neurodegenerative disorder, affects at least 1% of the population over the age of 50. However, very little information is available regarding the molecular basis of PD among Indians. Since the largest number of mutations have been detected in the Parkin gene among all known PD loci, we aim to use Parkin as the candidate gene to assess its role in PD-related pathogenesis in Indian patients. A total of 138 PD patients, with the mean age of onset being 47+/-14 (age range, 5-77 years), and 100 controls were recruited for the study from eastern India. Parkin mutations were detected by amplification of exons of the gene along with the flanking splice junctions by polymerase chain reaction, single-stranded conformation polymorphism and DNA sequencing. A total of 18 nucleotide variants including six novel changes were detected. These include five missense mutations (Gln34Arg, Arg42Cys, Arg42His, Tyr143Cys and Arg334Cys) detected in eight patients in heterozygous condition and a homozygous deletion encompassing exons 3 and 4 in two sibs affected with PD. Clinical features of the Parkin mutants were compared. Among eastern Indian PD patients, mutation in Parkin was identified in 7.24% cases.


Asunto(s)
Mutación Missense , Enfermedad de Parkinson/etnología , Enfermedad de Parkinson/genética , Ubiquitina-Proteína Ligasas/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Exones/genética , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/epidemiología , Humanos , India/epidemiología , Masculino , Persona de Mediana Edad , Linaje , Polimorfismo de Nucleótido Simple , Prevalencia
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