BackgroundSpinocerebellar 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.MethodsGenomic 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.ResultsBy 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.ConclusionsOur 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.

Background: Case reports of subacute sclerosing panencephalitis (SSPE) in individuals with human immunodeficiency virus (HIV) infection are scarce, and the natural history is unclear. To our knowledge, a fulminant presentation has not yet been described. Objective: To describe a case of fulminant SSPE in an individual with a perinatally acquired HIV infection.

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Patients with polycythemia vera are at high risk for vaso-occlusive events including cerebral ischemia and hemorrhage. Cerebral ischemic events are due to increased blood viscosity and platelet activation within the central nervous system arterial vessels. We present a case of a 65-year-old woman who presented to the emergency department with seizures followed by left-sided weakness. Hematologic investigations revealed a hyperviscous state, and magnetic resonance imaging (MRI) was consistent with bilateral hemorrhagic infarction. Genetic studies were positive for polycythemia vera mutation. Symptoms improved with phlebotomy and antiplatelet agents. Through this case, we aim to highlight polycythemia vera as a cause of hemorrhagic stroke and the importance of blood counts in the routine evaluation of the same.

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