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Abstract The benefits of large-scale genetic studies for healthcare of the populations studied are well documented, but these genetic studies have traditionally ignored people from some parts of the world, such as South Asia. Here we describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations. We characterize population structure in South Asia and describe a genotyping array (SARGAM) and imputation reference panel that are optimized for South Asian genomes. We find evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of rare homozygotes that reach 100 times that seen in outbred populations. Founder effects increase the power to associate functional variants with disease processes and make South Asia a uniquely powerful place for population-scale genetic studies.

Background and Objectives: Parkinson’s disease (PD) is a neurodegenerative disorder involving depletion of dopaminergic neurons. Pathogenetic mechanisms leading to striatonigral degeneration are debatable. Chronic inflammation is proposed as one of the mechanisms. In any disease with underlying inflammation, immune system mediators called cytokines are released, leading to a procoagulant state. Our aim was to study the coagulation parameters in patients with PD and find their correlation with disease duration and antiparkinsonian drugs. Methods: This cross-sectional study was conducted between January 2021 and December 2021 in a tertiary care center. Sixty-eight patients with PD were subcategorized based on disease duration (

Aim: To assess the changes in frequency parameters of STN-DBS stimulation over 6 months required to optimize gait in PD patients. Methods: It's a single center, open label longitudinal study of PD patients after STN-DBS with gait disorders. Gait assessment using stand–walk–sit (SWS) test and freezing of gait (FOG) scores were done at baseline and after 6 months. Gait was assessed in five frequencies settings, that is, 60 Hz, 90 Hz, 130 Hz, 180 Hz and stimulation “OFF” during medication ON state. Voltage was maintained. Results: Fifteen post-deep brain stimulation (DBS) patients were included. Mean duration after surgery was 3.73 ± 2.82 years. In SWS and FOG at baseline, five patients have good response at 180 Hz frequency, five at 130 Hz, one at 90 Hz, two patients at 60 Hz, one both 60 and 90 Hz, and one at both 90 and 180 HZ. And after 6 months out of the 13 patients who were able to perform the test, four patients had good response at 180 Hz frequency, four at 130 Hz, two at 90 Hz, one each for 60 Hz and battery OFF state, and one for both 130 Hz and 180 Hz. At 6 months, four patients had good response at the same frequency as baseline, while 11 patients have change in frequency from baseline. Conclusion: Optimal frequency for gait varies in patients—both low and high frequency may be useful. Optimal frequency for improving gait changes over period of time. Regular assessment and changing frequency may improve gait after DBS.

To report a patient with concomitant aceruloplasminemia (with a novel mutation) and IgG4-related pachymeningitis and to hypothesize on the possible relation between the two diseases. Clinical, radiological, and laboratory features of a 56-year-old lady with chronic headache, bifacial palsy, and cerebellar signs are described. Pathophysiology of aceruloplasminemia leading to hyperferritinemia and consequent immune activation is elucidated. A coherent explanation of IgG4-related pachymeningitis resulting from aceruloplasminemia and hyperferritinemia is given. The patient has aceruloplasminemia with a novel nonsense mutation. She also suffers from biopsy-proven IgG4 related pachymeningitis as per standard criteria. These two seemingly unrelated illnesses are linked by hyperferritinemia. This case is a fine example of Occam's razor. Immune dysfunction and autoimmune disorders in aceruloplasminemia need to be explored through further studies to look for causal associations.