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Dr. Sanjeev Jain, Dr. Meera Purushottam, and Dr. Biju Vishwanath at the Molecular genetics Laboratory at NIMHANS have been working in close collaboration with the movement disorder subspeciality, with a special interest in disorders such as Huntington’s disease and the ataxias, which are inherited in an autosomal dominant and recessive manner. We have been providing genetic testing, and counselling (pre-test and post-test) for these individuals and their families; as well as collaborating on the clinical issues, especially mental health issues, in those coming to the clinic. This work has explored haplotype diversity, evidence of admixture and geographical distribution of the mutations in our setting, and established clinical correlations with the mutations; including the presence of both neurological and psychiatric morbidity. We observe that in most instances of these Mendelian disorders, the most common haplotypes in our samples overlap with those observed in European populations; suggestive of a long pattern of admixture. The detailed genetic analysis has also served as a springboard for other studies using physiological markers (sleep, heart –rate variability etc.), neuropsychological evaluations and imaging correlates. We hope to expand this work into studying some of the parameters of the disease, in a dish, using iPSC and differentiated neurons and glia; and other model systems. We have also encouraged families to establish an association, to increase the sense of community engagement, and increase awareness. The complex psychiatric and neurological phenotypes observed in these syndromes also inform us of the underlying complexity of the processes that produce varied symptoms, at different stages of the illness; and the need for interventions from the molecular mechanisms to the social interventions.
Dr. Monojit Debnath, from the Department of Human Genetics actively collaborates with the Movement Disorder team for conducting genetic, epigenetic and immunogenetic research as well as guiding students for Ph.D and DM (Neurology) thesis. He is involved in three funded research projects on movement disorders as one of the investigators. This includes I) Michael J. Fox Foundation, USA sponsored project on “Genetic Architecture of Parkinson’s Disease in India, II) SERB, India funded project on “Susceptibility of brain white matter to inflammatory mediators in Parkinson’s disease: An exploratory DTI study and III) ICMR, India funded project on “Spectrum of genetic mutations and their association with clinical phenotypes of progressive supranuclear palsy (Prof. Ravi Yadav)”. Currently, Dr. Debnath has created a new facility and is maintaining repositories of DNA, RNA and serum samples of patients with various movement disorders.
From last two decades, Dept of neurophysiology has collaborative research with movement disorder team of dept of Neurology. Autonomic nervous system dysfunction (AD) is a common morbidity in patients with movement-related disorders such as Parkinson’s disease (PD), Spinocerebellar ataxias (SCA), Multiple system atrophy (MSA), and Duchenne muscular dystrophy (DMD). The neurodegenerative process affects vital brain regions involved with autonomic control. With two decades of research in AD and movement-related disorders, we observed AD (cardiac or pulmonary dysfunction) precedes motor symptoms, exhibited in the form of loss in vagal tone and increased sympathetic activity with restrictive pulmonary dysfunction. Our study on the Autonomic and clinical profile of probable MSA patients has shown an overall reduction in heart rate variability (SDRR) with increased UMSARS_2 clinical scale at follow-up intervals of six months and twelve months compared to baseline. Implying that autonomic dysfunction worsens as the disease progresses.
Furthermore, research on patients with PD on partial weight supported treadmill gait training (PWSTT) showed a significant improvement in Baroreflex sensitivity (BRS), making it a non-invasive method to influence BRS and prevent orthostatic blood pressure fall in patients with PD. As a review from our research finding in the area of AD and movement-related disorders, we emphasize to assess AD at an early stage (sub-clinically) to enhance treatment strategies and prevent disease progression. We have also found that introducing specific rehabilitation techniques such as chest physiotherapy, yoga, and breathing exercises could enhance cardiac and respiratory performance in the early management of movement-related disorders. Furthermore, we have also found that autonomic symptoms could be significantly improved with proper drug treatment, highlighting the importance of patient compliance on drug intake for movement related disorders.
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Psychological and neurocognitive deficits play a central role in deeper understanding of the complex manifestations of movement disorders. Dr. Keshav Kumar J has been actively collaborating with Parkinson’s disease and movement disorder center for about a decade. The collaboration has been primarily in understanding cognitive impairment in Parkinson’s disease and Movement disorder including patients with autosomal dominant spinocerebellar ataxia, essential tremor, REM sleep Behaviour Disorder, in Huntington’s Disease, Abnormalities of white and grey matter in multiple system atrophy and essential tremors, Social cognition and theory of mind. He has also explored the use of Tai chi and Qigong as intervention method for non-motor symptoms in Parkinson’s disease.
Our collaboration with Dr. Shantala Hegde Associate Professor of Clinical Neuropsychology started since 2013-14. Together we have been collaborating on several funded research collaborations exploring the nature of neurocognitive deficits in conditions like PD and Spinocerebellar Ataxia (SCA). In addition to the traditional neurocognitive profiling, Shantala Hegde, also extends her research interest to explore deficits in emotion, music and rhythm perception in conditions like Parkinson’s disease. Among the various non-pharmacological approaches being explored to target the non-motor symptoms of PD, music-based interventions have been showing promise in alleviating symptoms by utilising the tenets of music through systematically developed interventions. The past decade has seen a substantial rise in controlled studies that have assessed the theorized rehabilitative function of music-related treatment strategies including active music listening, therapeutic singing and playing of an instrument, across various neurological conditions. Dr. Shantala Hegde has been awarded with the Wellcome Trust India Alliance DBT Intermediate fellowship (hyperlink- https://www.indiaalliance.org/fellow/shantala-hegde) to take this area of research forward. An ongoing PhD research work is exploring the neurocognitive deficits, emotion perception deficits in PD patients with and without psychosis. Along with traditional neurocognitive assessments, EEG/ERP method is being used to study the differences in neurocognitive processes in this clinical condition. Our research collaboration aims to explore newer treatment methods that aim at improving not only cognitive functioning but overall functionality and quality of life.
The collaborative work of Dept. of SPA by Dr. BK Yamini, and Dr. Vandana with Dept. of Neurology is in the area of dysarthria in Parkinson’s Disease – Effect of deep brain stimulation on speech of patients with Parkinson’s disease; voice and central auditory processing in Essential tremor as well as dysarthria and dysphagia in Wilson Disease, through projects and PhD research. This Interdisciplinary work has been showcased in Conference presentations and their peer- reviewed publications as well participation in camps and public education.
Dr. V. Selva Ganapathy and his team from the Physiotherapy section have been associated with Parkinson’s Diseases &movement disorder team in various capacities since many years. The collaborative work includes clinical, academic, and research in movement disorder. The clinical service is offered in terms of balance and gait analysis using posturography and kinematic gait analysis. The therapy service to patients with Parkinson’s diseases, spinocerebellar ataxia, PSP, HD, ET, etc, include a “fall prevention program” and promotion of mobility outcomes through balance and gait retraining.
The team regularly participates in the awareness and educational camp organized for patients with movement disorder and delivers consultation on the balance and gait issues of the patients. Similarly workshop on management of balance disorders organized to develop human resource in this specialty field among physiotherapist and clinicians. The academic and research work of the students from the department of neurology and clinical neuroscience with movement disorder background has been facilitated by Dr. Selva Ganapathy, and this work has been presented at national, international movement disorder conference as well as published in leading journals.
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