Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort.

BACKGROUND: Spinocerebellar ataxia type 1 (SCA1) is a late onset autosomal dominant cerebellar ataxia, caused by CAG triplet repeat expansion in the ATXN1 gene. The frequency of SCA1 occurrence is more in Southern India than in other regions as observed from hospital-based studies. However there are no reports on variability of CAG repeat expansion, phenotype-genotype association and founder mutations in a homogenous population from India. METHODS: Genomic DNA isolated from buccal mouthwash of the individuals in the cohort was used for PCR-based diagnosis of SCA1. Subsequently SNP's found within the ATXN1 loci were identified by Taqman allelic discrimination assays. Significance testing of the genotype-phenotype associations was calculated by Kruskal-Wallis ANOVA test with post-hoc Dunnett's test and Pearson's correlation coefficient. RESULTS: By genetic analysis of an affected population in Southern India we identified 21 pre-symptomatic individuals including four that were well past the average age of disease onset of 44 years, 16 symptomatic and 63 normal individuals. All pre-symptomatic cases harbor "pure" expansions of greater than 40 CAGs. Genotyping to test for the presence of two previously identified SNPs showed a founder effect of the same repeat carrying allele as in the general Indian population. We show that SCA1 disease onset is significantly delayed when transmission of the disease is maternal. CONCLUSIONS: Our finding of early disease onset in individuals with a paternally inherited allele could serve as valuable information for clinicians towards early detection of SCA1 in patients with affected fathers. Identification of older pre-symptomatic individuals (n = 4) in our cohort among individuals with a shared genetic and environmental background, suggests that second site genetic or epigenetic modifiers might significantly affect SCA1 disease progression. Moreover, such undetected SCA1 cases could underscore the true prevalence of SCA1 in India.

Profile and Outcome of Near-hanging Patients Presenting to Emergency Department in a Tertiary Care Hospital in South India - A Retrospective Descriptive Study.

BACKGROUND: Hanging is one of the common modes of deliberate self-harm presenting to emergency departments (EDs) across the world. Early intervention and aggressive resuscitation can decrease the morbidity and mortality associated with near-hanging. Our aim was to study the profile of patients presenting with near-hanging and their outcome to our adult ED. MATERIALS AND METHODS: Medical records of patients with age more than 15 years presenting with near-hanging to the ED was reviewed retrospectively. The following profile data such as age, gender, marital status, material used for hanging, and type of hanging were collected. The information regarding the outcome of the patients from the hospital also analyzed. The data were analyzed to express the mean (±standard deviation) for the quantitative variables and frequency for the qualitative variables (±percent) using SPSS statistical software. RESULTS: The analysis of 2 years data from August 2014 to July 2016 revealed 77 patients reached the ED with near-Hanging. The mean age of the patients - 31.1 years. Approximately, 43% were complete hanging, while rest were partial hanging. Majority of the patients used dressing materials for hanging themselves. Out of 77 patients, 64 were discharged alive while 2 patients died in the hospital and 11 were left against medical advice. CONCLUSIONS: Hanging is still a major mode of deliberate self-harm in South India both among men and women. The outcome of near-hanging is positively influenced by early admission and active treatment.