Shyamal Kumar Das

Wilson's disease: an update

Wilsons disease (WD) is an inborn error of copper metabolism caused by a mutation to the copper-transporting gene ATP7B. The disease has an autosomal recessive mode of inheritance, and is characterized by excessive copper deposition, predominantly in the liver and brain. Diagnosis of the condition depends primarily on clinical features, biochemical parameters and the presence of the Kayser–Fleischer ring, and a new diagnostic scoring system has recently been proposed. Mutations in ATP7B can occur anywhere along the entire 21 exons, which makes the identification of gene defects particularly challenging. Identification of carriers and presymptomatic family members of affected individuals is achieved by polymerase-chain-reaction-based marker analysis. The traditional treatment for WD is based on copper chelation with agents such as D-penicillamine, but use of this drug has been questioned because of reported side effects. The use of agents such as trientine and ammonium tetrathiomolybdate has been advocated, although results of long-term trials are awaited. In selected cases, orthotropic hepatic transplantation can reverse the basic metabolic abnormality in WD and improve both hepatic and neurological symptoms. Studies of the underlying defects in ATP7B and its suspected modifiers ATOX1 and COMMD1 are expected to unravel the diseases genotype–phenotype correlation, and should lead to the design of improved drugs for ameliorating the suffering of patients.

A Prospective Community-Based Study of Stroke in Kolkata, India

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. Conclusion— 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.

An epidemiologic study of mild cognitive impairment in Kolkata, India

Objectives: To estimate the prevalence of two types of mild cognitive impairment (MCI)—amnestic and multiple domain types—among nondemented and nondepressed elderly subjects aged 50 and older. Methods: The study was carried out in Kolkata, the eastern metropolis of India. A cross-sectional community screening was carried out, and 960 subjects were selected by systematic random sampling for the assessment of cognitive function with the help of a validated cognitive questionnaire battery administered through house-to-house survey. A case-control study was also undertaken to identify potential risk factors through univariate analysis. Results: Ultimately, full evaluation of cognitive function was possible in 745 of 960 subjects. An overall prevalence of MCI detected based on neuropsychological testing was 14.89% (95% CI: 12.19 to 17.95). Prevalence of the amnestic type was 6.04% (95% CI: 4.40 to 8.1) and that of the multiple domain type was 8.85% (95% CI: 6.81 to 11.32). Adjusted for age, education. and gender, the amnestic type was more common among men and the multiple domain type among women with advancement of age. Rates differed considerably with educational attainment. Hypertension and diabetes mellitus were the major risk factors for both types of MCI. Conclusion: In this first community-based study of mild cognitive impairment (MCI) from India, prevalence of the amnestic type is comparable with and that of the multiple domain type is less than the prevalence in developed countries. Variations in age, education, and gender specific prevalence of MCI of both types were encountered. The putative risk factors identified merit further study.

Stroke Indian Scenario

In terms of population, India ranks second only to China. Recent rapid socioeconomic changes have led to a concomitant change in people’s lifestyle, leading to work-related stress and altered food habits, raising the risk of hypertension. Those factors, coupled with an increase in the average life expectancy, are expected to have an impact on the occurrence of stroke disorder in India. Conducting an epidemiological survey in a developing and populated country like India with relatively few neurologists is a daunting task. As late as 2000, India was ranked among the countries lacking sufficient research data on stroke.1 In the last decade, however, some critical data on stroke disorder in India have become available. This article aims to provide an overview of stroke in India, with particular reference to epidemiological parameters, etiologic characteristics, and outcome profile. The present article also aims to address the lack of sufficient public awareness about the disease. Insufficient systematic data on the management of stroke preclude its inclusion in this review.

Epidemiology of Parkinson disease in the city of Kolkata, India A community-based study

Objective: No well-designed longitudinal study on Parkinson disease (PD) has been conducted in India. Therefore, we planned to determine the prevalence, incidence, and mortality rates of PD in the city of Kolkata, India, on a stratified random sample through a door-to-door survey. Method: This study was undertaken between 2003 to 2007 with a validated questionnaire by a team consisting of 4 trained field workers in 3 stages. Field workers screened the cases, later confirmed by a specialist doctor. In the third stage, a movement disorders specialist undertook home visits and reviewed all surviving cases after 1 year from last screening. Information on death was collected through verbal autopsy. A nested case-control study (1:3) was also undertaken to determine putative risk factors. The rates were age adjusted to the World Standard Population. Result: A total population of 100,802 was screened. The age-adjusted prevalence rate (PR) and average annual incidence rate were 52.85/100,000 and 5.71/100,000 per year, respectively. The slum population showed significantly decreased PR with age compared with the nonslum population. The adjusted average annual mortality rate was 2.89/100,000 per year. The relative risk of death was 8.98. The case-control study showed that tobacco chewing protected and hypertension increased PD occurrence. Conclusion: This study documented lower prevalence and incidence of PD as compared with Caucasian and a few Oriental populations. The mortality rates were comparable. The decreased age-specific PR among slum populations and higher relative risk of death need further probing.

Neurological disorders in children and adolescents

ObjectiveTo ascertain the prevalence of active epilepsy, febrile seizures (FS), cerebral palsy (CP) and tic disorders (TD) in aged 19 years or less.MethodsThis was a cross-sectional observational study conducted as a two-stage door-to-door survey of a stratified randomly selected population in 2003-04. Trained field workers screened the population followed by case examination by the field neurologist.ResultsA total of 16979 (male 8898, female 8081) subjects aged ≤ 19 years were surveyed. The prevalence rates per 100,000 population of active epilepsy, FS, CP and TD with 95% confidence intervals are 700.87 (580.60–838.68), 1113.14 (960.07–1283.59), 282.70 (CI 208.43–374.82) and 35.34 (12.96–76.92) respectively. Active epilepsy prevalence shows a rising trend and that of other disorders a declining trend with age. Of the epileptics who had brain CT scans, 23.4% showed single or multiple lesions suggestive of neurocysticercosis. Regarding treatment, 23.5% of the epileptics never received any antiepileptic drugs. Among those with history of FS, 9.5% developed epilepsy later on. The prevalence of FS among slum dwellers is lower than in the non-slum population. Among CP cases, 39.6% gave history of birth anoxia, 16.7% kernicterus and 31.3% epilepsy. Prevalence of CP is significantly associated with lower education status.ConclusionThe prevalence of CP and TD is lower than reported from western countries. CP prevalence is also comparatively lower than in many community studies from India. Compared to western nations, higher proportion of FS cases develops epilepsy. A third of the CP cases have seizures which is higher than in many Indian studies. Birth anoxia is a common cause of CP and educational underachievement is frequent.

Burden Among Stroke Caregivers: Results of a Community-Based Study From Kolkata, India

Background and Purpose— Stroke causes significant caregiver (CG) stress, which is under-reported in India. This study assesses the financial, physical, psychological, and family burden on CG of stroke patients in an urban community. Methods— Cross-sectional survey of stroke patients and CG were selected from a community-based registry using validated scales through face-to-face interviews. Results— Data were available from 199 stroke survivors and a similar number of CG. Increased workload, related anxiety and depression, and sleep disturbance were reported by 70%, 76%, and 43% of CG, respectively, whereas >80% reported financial worry, which was greater among slum dwellers and less educated families. CG of patients with dementia and depression experienced greater stress. Female CG received more appreciation and family bonding was well-maintained. Conclusions— Financial stress was prominent and common among the socioeconomically weaker section. Psychological stress is similar to that of other studies. Women CG received greater appreciation. Family bonding was well-preserved in contrast to that of a western report.

A longitudinal study of epilepsy in Kolkata, India.

Purpose:u2002 This study aimed to determine the prevalence, incidence, and mortality rates of epilepsy in the city of Kolkata, India. This is the first such longitudinal study in a heterogeneous urban Indian population.

Early and Delayed Fatality of Stroke in Kolkata, India: Results From a 7-Year Longitudinal Population-Based Study

There is no previously published well-designed study on long-term outcome of stroke from India. The present study has examined the case fatality rate and survival pattern in patients with stroke in a stratified, randomly selected sample from a large Indian metropolitan area. This prospective study was conducted over 7 years (March 2003 to February 2010) using a validated questionnaire administered by a field team and headed by a neurologist. A cross-sectional house-to-house survey was repeated twice yearly. A verbal autopsy was performed to assess cases of death. The Kaplan-Meier method was applied for survival analysis. A cohort of 763 stroke cases were followed up. The overall stroke fatality was approximately 59% at 5 years and 61% at 7 years. Early fatality was 33% within 7 days and 42% within 30 days. Men were at greater risk of death than women. Logistic regression analysis revealed male sex and diabetes to be important predictors of fatality. The majority of deaths were attributable to the index stroke (70%), followed by recurrent stroke (19%) and cardiovascular causes (7%). Beyond the first year, recurrent stroke was by far the most common cause of death. Median survival time exceeded the 84-month observation period when 30-day fatalities were excluded. Early stroke fatality is higher in this study compared with reports from developed countries, but long-term survival is similar. Beyond 1 year, the causes of stroke fatality are similar to that reported in other Asian populations. Access to acute stroke care and appropriate preventive strategy are urgently needed to reduce early stroke fatality in India.

Analysis of dystrophin gene deletions by multiplex PCR in eastern India.

The most common genetic neuromuscular disease of childhood, Duchenne and Becker muscular dystrophy (DMD/BMD) is caused by deletion, duplication or point mutation of the dystrophin gene located at Xp 21.2. In the present study DNA from seventy unrelated patients clinically diagnosed as having DMD/BMD referred from different parts of West Bengal, a few other states and Bangladesh are analyzed using the multiplex polymerase chain reaction (m-PCR) to screen for exon deletions and its distribution within the dystrophin gene. Out of seventy patients forty six (63%) showed large intragenic deletion in the dystrophin gene. About 79% of these deletions are located in the hot spot region i.e, between exon 42 to 53. This is the first report of frequency and distribution of deletion in dystrophin gene in eastern Indian DMD/BMD population.