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Background Wilson's disease (WD) is a rare copper metabolism disorder with hepatic and neurological symptoms. Dopamine β hydroxylase (DBH) encodes a copper-dependent mono-oxygenase that converts dopamine to norepinephrine, thereby regulating the endogenous dopamine content in the neurons. Polymorphisms of DBH have been reported to be associated with several neurological diseases, such as Parkinson's disease, Alzheimer's disease, schizophrenia and attention-deficit hyperactivity disorder, which have overlapping neurological symptoms with WD. The present study aimed to assess the role of DBH polymorphisms on the clinical course of WD. Methods In total, 141 WD patients from India were included in the present study. Three polymorphisms of DBH (rs1611115 in the promoter, rs1108580 in exon 2 and rs129882 in 3'-UTR) were screened for their association with the clinical attributes (hepatic and neurological features) and age of onset of WD using a polymerase chain reaction-restriction fragment length polymorphsm method and sequencing approach. The distribution of genotype or allele frequencies was tested using 2 × 2 contingency chi-squared and logistic regression analysis (additive, dominant and recessive model). Results The genotypic and allelic frequencies of these single nucleotide polymophisms did not vary significantly along with the clinical symptoms (hepatic and neurological) or the age of onset of WD. No significant association was observed when we analyzed our samples with respect to harboring different kinds of ATP7B mutations (nonsense/in-del and missense). Conclusions The data obtained in the present study suggest that the selected DBH variants are unlikely to have any significant contribution towards modifying the clinical symptoms of Indian WD patients.

Objectives Increase in aging population is expected to lead to increasing prevalence of dementia in India. In this study, we aimed to determine prevalence, incidence, and mortality of dementia and its subtypes and assess dementia burden in terms of disability-adjusted life years (DALY). Methods A community study was conducted over 5 years (2003-2008) in Kolkata, India, on 100,802 (males 53,209) randomly selected subjects to assess prevalence and capture data on incident cases and deaths. Standard case definitions were used. The data were used to estimate years of life lost (YLL) due to premature mortality, years of life lived with disability (YLD), and DALY, based on Global Burden of Disease 2010 approach. Results During 2003-2004, there were 103 (men 55) cases of dementia. The prevalence was 1.53% (age adjusted 1.12%) at age ≥65 years. In those ≥55 years age, average annual incidence rate of dementia was 72.57 per 100,000. All-cause standardized mortality ratio in dementia cases was 4.74 (men 6.19, women 3.03). The burden of dementia in 2007-2008 revealed that overall YLL was 47.13 per 100,000 and YLD ranged from 1.87 to 16.95 per 100,000 depending on the clinical severity of dementia. The overall DALY lost per 100,000 due to dementia for the year 2007-2008 was 74.19. Conclusions This community study revealed a low prevalence and incidence of dementia with consequent low DALY-derived burden of illness compared with many industrialized nations. YLL formed major component of DALY indicating premature mortality to be an outcome of dementia burden. Copyright © 2016 John Wiley & Sons, Ltd.

Summary Purpose: 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. Methods: A two-stage door-to-door survey of a stratified random sample was undertaken within the municipal limits of Kolkata. Trained field workers detected and interviewed the cases using a simple screening questionnaire, and the detailed follow-up was done by neurologists. The survey was conducted annually for five consecutive years from March 2003 through February 2008. Results: A total of 52,377 (52.74% men) individuals were screened. There were 309 prevalent and 66 incident cases of active epilepsy. The prevalence and average annual incidence rate (AAIR) with 95% confidence interval (CI), age-standardized to World Standard Population, were 572.8 (509.79–641.54) per 100,000 and 27.27 (21.03–34.80) per 100,000 per year, respectively. The age-specific incidence rates of epilepsy showed bimodal distribution. During the 5-year period, 20 cases of active epilepsy died. The average annual mortality rate (AAMR) was 7.63 (95% CI 4.45–11.26) per 100,000 population per year. Compared to the general population of Kolkata, the all-cause standardized mortality ratio (SMR) for persons with epilepsy was 2.58 overall (men 3.67; women 1.77). There was no significant difference between slum and nonslum dwellers in epidemiologic parameters. Conclusions: The AAIR of epilepsy is comparable to that observed in developed countries, but AAMR is higher. The all-cause SMR for epilepsy relative to the general population is, however, similar to that of developed nations.

Background and purpose: Prevalence of essential tremor (ET), one of the most common movement disorders, has not been properly evaluated amongst heterogeneous population in India. Methods: We conducted a cross-sectional epidemiological study on the prevalence of ET in a randomly stratified population in the metropolitan city of Kolkata (erstwhile Calcutta), India, by a field team headed by a specialist doctor. A two-stage house-to-house survey was carried out with a validated screening instrument. Results: A population of 52377 was screened and a total of 184 cases of ET were identified as per pre-defined criteria and the prevalence rate adjusted to World Standard Population was 3.95 per 1000 (95% CI: 3.40–4.56). Age-specific prevalence showed increasing prevalence with aging. Sex-specific prevalence did not show significant difference between men and women. Socio-economic factors appeared to influence the prevalence and risk of ET was higher amongst slum dwellers versus non-slum population (odd ratio-2.29). Family history was positive in about one-fifth of the cases. Conclusion: This study has documented that the prevalence of ET above 40 years in India is similar to that of many countries globally and common amongst slum dwellers and there are fewer familial cases.

An epidemiological study on dystonia has not been reported from India. As part of a major study to find out the prevalence of major neurological disorders in the large urban city of Kolkata, Eastern India, we planned to determine the prevalence of primary dystonia. The study design was a cross-sectional study of a sample population obtained through stratified random selection and conducted in a two-stage procedure of screening by a nonprofessional team followed by confirmation of screened positive cases by the study neurologist. A total population of 52,377 was screened, and 29 subjects with dystonia were diagnosed. Out of them 23 subjects had primary dystonias [crude prevalence rate (CPR), 43.91/100,000; 95% confidence interval (CI), 28.41-64.81; age-standardized rates to world standard population, 49.06 (95% CI,31.74-72.41)] and all cases were focal type and predominantly of limb dystonia variety. Mean onset of dystonias were earlier in women (43.5 years) as compared to men (46.6 years). Thus our study on primary dystonia shows higher prevalence when compared with that of many studies globally, predominantly of focal type, earlier onset among women, and more cases of limb dystonias when compared with more prominent blepharospasm and cervical dystonias in western reports.

Summary Friedreich ataxia (FRDA), the most common type of ataxia worldwide, is an autosomal recessive disease. Homozygous expansion of GAA repeats in the first intron of the frataxin gene constitute the major type of mutation that causes the disease. The prevalence of FRDA in diverse ethnic populations of India has not been widely studied. We have studied the distribution of polymorphic GAA repeats in the frataxin gene among 6 clinically diagnosed patients and 160 ethnically matched normal individuals, to gather information on the prevalence of FRDA in the eastern part of India. Homozygous expansion in the range of 250–730 GAA repeats was detected among the patients. Among normal individuals, we observed a unimodal distribution of GAA repeats, consisting of 10 different alleles ranging from 7 to 16 GAA repeats, where the 9 repeat allele had maximal frequency. Only 5.9% of all chromosomes were found to harbour >12 GAA repeats. Haplotype analysis using closely linked four bi-allelic markers in and around the frataxin gene indicated that 66.7% of the expanded alleles harbour the ATCC haplotype that has been reported worldwide. This haplotype was present in 53.3% of the chromosomes with >12 GAA repeats, and accounted for only 3.8% of chromosomes with 7 to 12 GAA repeats. We found one novel haplotype, ACCT, among the expanded alleles as well as among normal individuals, though at low frequency; this haplotype may be characteristic of Indian populations.