24 results on '"Pandey, Sanjay"'
Search Results
2. Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects
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Kumar, Sumeet, Yadav, Navneesh, Pandey, Sanjay, and Thelma, B. K.
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- 2018
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3. The Spectrum of Non-Parkinsonian Tremor: A Registry at a Tertiary Care Teaching Institute.
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Pandey, Sanjay, Dinesh, Shreya, Rawat, Chandra Shekhar, and Thelma, B. K.
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TREMOR ,PARKINSON'S disease ,ESSENTIAL tremor ,DYSTONIA ,PARKINSONIAN disorders - Abstract
Background: Tremors other than those associated with Parkinson's disease (nonparkinsonian tremor) are commonly observed in clinical settings. However, their frequency and clinical characteristics have rarely been reported. Objectives: To classify non-parkinsonian tremors based on the consensus statement on the classification of tremors, from the task force of the International Parkinson and Movement Disorder Society published in 2018. Methods: A prospective registry at a tertiary care teaching institute. Results: A total of 475 patients with non-parkinsonian tremors were recruited for the study. 67.57% (n = 321) of our patients were male and a family history of tremor was present in 20.84% (n = 99) of patients. Dystonic tremor (DT) was the most common non-parkinsonian tremor (33.26%). 27.78% of patients fulfilled the new classification criteria for essential tremor, with 13.47% classified as pure ET (ET) and 14.31% exhibiting neurological soft signs, leading to the classification of ET plus (ETP). Patients with ETP had more family history (57.35%) [vs DT (26.48%, p = 0.00004) and ET (10.93%, p = 0.00003], longer duration of disease [mean ± standard deviation (SD) = 9.53 ± 8.64 years] [vs DT (5.60 ± 5.93, p = 0.0003) and ET (6.38 ± 5.97, p = 0.01) years], and more severe tremor as measured by the essential tremor rating assessment scale total score [mean ± SD = 27.42 ± 11.70] [vs DT (23.50 ± 8.62, p = 0.007) and ET (22.12 ± 8.19, p = 0.007)] compared with patients with DT and ET. Conclusions: DT was the most common cause of non-parkinsonian tremor in our registry followed by essential tremor syndrome. ETP was more common than ET. [ABSTRACT FROM AUTHOR]
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- 2023
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4. Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research
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Rajan, Roopa, Divya, K. P., Kandadai, Rukmini Mridula, Yadav, Ravi, Satagopam, Venkata P., Madhusoodanan, U. K., Agarwal, Pankaj, Kumar, Niraj, Ferreira, Teresa, Kumar, Hrishikesh, Sreeram Prasad, A. V., Shetty, Kuldeep, Mehta, Sahil, Desai, Soaham, Kumar, Suresh, Prashanth, L. K., Bhatt, Mohit, Wadia, Pettarusp, Ramalingam, Sudha, Wali, G. M., Pandey, Sanjay, Bartusch, Felix, Hannussek, Maximilian, Krüger, Jens, Kumar-Sreelatha, Ashwin, Grover, Sandeep, Lichtner, Peter, Sturm, Marc, Roeper, Jochen, Busskamp, Volker, Chandak, Giriraj R., Schwamborn, Jens, Seth, Pankaj, Gasser, Thomas, Riess, Olaf, Goyal, Vinay, Pal, Pramod Kumar, Borgohain, Rupam, Krüger, Rejko, Kishore, Asha, and Sharma, Manu
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biobank ,Study Protocol ,genome-wide association study ,Neurology ,common genetic variation ,Parkinson's disease ,genetic diversity ,Genetics & genetic processes [F10] [Life sciences] ,Génétique & processus génétiques [F10] [Sciences du vivant] - Abstract
Over the past two decades, our understanding of Parkinson's disease (PD) has been gleaned from the discoveries made in familial and/or sporadic forms of PD in the Caucasian population. The transferability and the clinical utility of genetic discoveries to other ethnically diverse populations are unknown. The Indian population has been under-represented in PD research. The Genetic Architecture of PD in India (GAP-India) project aims to develop one of the largest clinical/genomic bio-bank for PD in India. Specifically, GAP-India project aims to: (1) develop a pan-Indian deeply phenotyped clinical repository of Indian PD patients; (2) perform whole-genome sequencing in 500 PD samples to catalog Indian genetic variability and to develop an Indian PD map for the scientific community; (3) perform a genome-wide association study to identify novel loci for PD and (4) develop a user-friendly web-portal to disseminate results for the scientific community. Our "hub-spoke" model follows an integrative approach to develop a pan-Indian outreach to develop a comprehensive cohort for PD research in India. The alignment of standard operating procedures for recruiting patients and collecting biospecimens with international standards ensures harmonization of data/bio-specimen collection at the beginning and also ensures stringent quality control parameters for sample processing. Data sharing and protection policies follow the guidelines established by local and national authorities.We are currently in the recruitment phase targeting recruitment of 10,200 PD patients and 10,200 healthy volunteers by the end of 2020. GAP-India project after its completion will fill a critical gap that exists in PD research and will contribute a comprehensive genetic catalog of the Indian PD population to identify novel targets for PD.
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- 2020
5. Levodopa-induced Dyskinesia: Clinical Features, Pathophysiology, and Medical Management
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Pandey, Sanjay and Srivanitchapoom, Prachaya
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dyskinesia ,Dopamine ,Parkinson's disease ,otorhinolaryngologic diseases ,Mini Series ,levodopa ,nervous system diseases - Abstract
Levodopa-induced dyskinesia (LID) is commonly seen in Parkinson's disease patients treated with levodopa. This side effect is usually encountered after long duration of treatment, but occasionally, this may be seen even after few days or months of treatment. LID is broadly classified as peak-dose dyskinesia, wearing-off or off-period dyskinesia, and diphasic dyskinesia. Pathogenesis of LID is complex, and different neurotransmitters such as dopamine, glutamine, adenosine, and gamma-aminobutyric acid play important role altering the normal physiology of direct and indirect pathway of cortico-basal ganglia-thalamic loop responsible for fine motor control. Treatment of LID requires careful history taking and clinical examination to find the type of dyskinesia as different approach is required for different types. Changes in dopaminergic medication including continuous dopaminergic stimulation are very helpful in the management of peak-dose dyskinesia. Different types of surgical approaches including unilateral pallidotomy and deep brain stimulation have given very good result in patients, who cannot be managed by medications alone. The surgical management of LID is dealt with in detail in another review in this series.
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- 2017
6. The Ala53Thr Mutation in the α‐Synuclein Gene in an Indian Patient with Young‐Onset Parkinson's Disease.
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Pandey, Sanjay and Tomar, Laxmikant Ramkumarsingh
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PARKINSON'S disease , *GENETIC mutation , *DEEP brain stimulation - Abstract
To conclude, our patient from India is a case of young-onset PD attributed to the Ala53Thr mutation in the I SNCA i gene, with some unusual features such as normal cognition and poor response to levodopa. Keywords: -synuclein gene; Parkinson's disease; Cognition EN -synuclein gene Parkinson's disease Cognition 624 626 3 05/04/21 20210501 NES 210501 The Ala53Thr mutation in the -synuclein gene ( I SNCA i ) was the first genetic mutation reported to cause autosomal-dominant Parkinson's disease (PD).1 The clinical profile of I SNCA i gene mutations tend to have early-onset PD, with a remarkable levodopa response initially.2 The disease may worsen relatively more rapidly than idiopathic PD and cognitive, psychiatric, and autonomic disorders are frequently observed.2 Here we report a patient with young-onset PD attributed to the Ala53Thr mutation in the I SNCA i gene; to the best of our knowledge, this is the first report from India. In this study, 2 other patients carrying the Ala53Thr mutation had a good response to levodopa. [Extracted from the article]
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- 2021
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7. Expanding the canvas of PRKN mutations in familial and early-onset Parkinson disease.
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Pandey, Sanjay, Tomar, Laxmikant Ramkumarsingh, Kumar, Sumeet, Dinesh, Shreya, and Thelma, B.K.
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PARKINSON'S disease , *GENETIC disorders , *CANVAS , *PATIENT-family relations , *AGE factors in disease , *COMPARATIVE studies , *ENZYMES , *HYPERHIDROSIS , *LONGITUDINAL method , *RESEARCH methodology , *MEDICAL cooperation , *GENETIC mutation , *RESEARCH , *EVALUATION research - Abstract
Background: Mutations in PRKN (PARK2) are commonly encountered in early-onset Parkinson disease (PD).Objectives: To screen for PRKN mutations in a clinically well-characterized cohort of early-onset PD patients with a family history (FEOPD; ≤50 years at onset) or sporadic (SEOPD; ≤50 years at onset) and late-onset familial patients (FLOPD; >50 years at onset).Methods: A total of 97 patients including 52 SEOPD and 45 familial PD (FEOPD: 23; FLOPD: 22) were screened for variants in PRKN by PCR- Sanger sequencing. PRKN dosage and variants in known PD genes were screened by qPCR and whole-exome sequencing in a subset of samples.Results: A total of 25 (25.77%) patients (SEOPD: 12, FEOPD: 6, and FLOPD: 7) were positive for PRKN variants. Of these, two patients manifested homozygous variants; while one patient was carrying three PRKN variants and two patients were carrying two PRKN variants. But, we could not examine their parents or relatives and their genotypes remain unknown. The remaining 20 (80%) patients were carrying heterozygous variants only. 32% of these variants were in exon 2, including a novel truncating homozygous variant (c.97C > T:p.Arg33Ter) in a SEOPD patient.Conclusion: In our cohort, a novel homozygous variant (c.97C > T:p.Arg33Ter) in a patient with hyperhidrosis expands the spectrum of PRKN associated mutations. Furthermore, ~80% of the PRKN variants being heterozygous in this study cohort, implies the utility of the cohort for identification of additional novel/known causative PD gene(s). [ABSTRACT FROM AUTHOR]- Published
- 2019
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8. Botulinum toxin in movement disorders.
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Tater, Priyanka and Pandey, Sanjay
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BOTULINUM toxin , *MOVEMENT disorders , *ACETYLCHOLINE , *ELECTROMYOGRAPHY , *PARKINSON'S disease , *DYSTONIA - Abstract
Botulinum toxin has gained immense popularity since its introduction for therapeutic use. It is used in a variety of movement disorders like hemi-facial spasm, focal dystonias like blepharospasm, cervical dystonia, oromandibular dystonia, limb dystonias. It is also being used in patients with tremors, tics and for a variety of indications in Parkinson's disease as well. There are eight subtypes of toxins available, but type A and B are the ones used in movement disorder clinics. The toxin mainly acts by inhibiting the release of acetylcholine at the neuromuscular junction and causing weakness. Type B toxin has more effect over the autonomic nervous system and hence is preferred for hyper-secretory disorders. The use of electromyography and ultrasound further improve the accuracy of the procedure. It is a relatively safe therapeutic option with its effect lasting for around three months. It has very few side effects. The key is to start with the lowest possible dose and then gradually increase the dose depending upon the patient's response. Selecting the right muscles for injection is of utmost importance and is guided by the knowledge of anatomy of the muscles. [ABSTRACT FROM AUTHOR]
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- 2018
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9. Assessment of striatal & postural deformities in patients with Parkinson's disease.
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Pandey, Sanjay and Kumar, Hitesh
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HUMAN abnormalities , *PARKINSON'S disease , *EXTRAPYRAMIDAL disorders , *ROTIGOTINE , *BRAIN diseases - Abstract
Background & objectives: Though striatal and postural deformities are known to occur commonly in atypical Parkinsonism patients, these may also be seen in patients with Parkinson‘s disease (PD). These are frequently misdiagnosed as joint or orthopaedic pathology leading to unnecessary investigations. This study was conducted to observe the various striatal and postural deformities among patients with PD in India. Methods: This study was conducted at a tertiary care teaching institute in north# India. Seventy consecutive patients with PD diagnosed as per the modified UK Brain Bank criteria were included. Various striatal (hand & foot) and postural (antecollis, camptocormia, scoliosis & Pisa syndrome) deformities and their relation with the duration of disease, severity [measured by the Unified Parkinson‘s Disease Rating Scale (UPDRS)] and levodopa intake were analyzed. Results: Of the 70 patients with PD, 34 (48.57%) had either striatal or postural deformities. Striatal foot was the most common deformity observed (25.71%). Camptocormia was the second most common deformity (20%). Striatal and postural deformities were seen in more advanced PD as suggested by significantly higher UPDRS and Hoehn and Yahr scale (P<0.001). Striatal deformities were more ipsilateral to PD symptom onset side (agreement 94.44%). Pisa and scoliosis concavity were more on contralateral side to PD symptoms onset side (66.67%). Interpretation & conclusions: Our results showed that striatal and postural deformities were common and present in about half of the patients with PD. These deformities we more common in patients with advanced stage of PD. [ABSTRACT FROM AUTHOR]
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- 2016
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10. Approach to a tremor patient.
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Sharma, Soumya and Pandey, Sanjay
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BOTULINUM toxin , *PARKINSON'S disease , *DEEP brain stimulation , *TREMOR , *THERAPEUTICS - Abstract
Tremors are commonly encountered in clinical practice and are the most common movement disorders seen. It is defined as a rhythmic, involuntary oscillatory movement of a body part around one or more joints. In the majority of the population, tremor tends to be mild. They have varying etiology; hence, classifying them appropriately helps in identifying the underlying cause. Clinically, tremor is classified as occurring at rest or action. They can also be classified based on their frequency, amplitude, and body part involved. Parkinsonian tremor is the most common cause of rest tremor. Essential tremor (ET) and enhanced physiological tremor are the most common causes of action tremor. Isolated head tremor is more likely to be dystonic rather than ET. Isolated voice tremor could be considered to be a spectrum of ET. Psychogenic tremor is not a diagnosis of exclusion; rather, demonstration of various clinical signs is needed to establish the diagnosis. Severity of tremor and response to treatment can be assessed using clinical rating scales as well as using electrophysiological measurements. The treatment of tremor is symptomatic. Medications are effective in half the cases of essential hand tremor and in refractory patients; deep brain stimulation is an alternative therapy. Midline tremors benefit from botulinum toxin injections. It is also the treatment of choice in dystonic tremor and primary writing tremor. [ABSTRACT FROM AUTHOR]
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- 2016
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11. Visual perceptual abnormalities in Parkinson's disease.
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Panda, Ashwin, Pandey, Sanjay, and Panda, Ashwin Kumar
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IMPULSE control disorders , *PARKINSON'S disease , *BRAIN , *VISUAL perception , *PERCEPTUAL disorders , *DISEASE complications - Abstract
The article examines the effect of visual perceptual problems such as visual misrepresentations (VM) and visual hallucinations (VH) to patients who are diagnosed with Patients with Parkinson's disease (PD). It highlights the increase of PD patients reported which 9.4% as of 2019. Also mentioned is the major role of visual processing in contrast sensitivity, line orientation, color perception and depth perception.
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- 2019
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12. Postural & striatal deformities in Parkinson's disease: Are these rare?
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Pandey, Sanjay and Garg, Hitesh
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PARKINSON'S disease diagnosis , *POSTURE disorders , *PROGRESSIVE supranuclear palsy , *MULTIPLE system atrophy , *PISA syndrome , *SCOLIOSIS , *DISEASE risk factors , *PARKINSON'S disease - Abstract
Parkinson's disease (PD) is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the patients. Patients with PD may have stooped posture but some of them develop different types of postural and striatal deformities. Usually these deformities are more common in atypical parkinsonian disorders such as progressive supranuclear palsy and multisystem atrophy. But in many studies it has been highlighted that these may also be present in approximately one third of PD patients leading to severe disability. These include antecollis or dropped head, camptocormia, Pisa syndrome, scoliosis, striatal hands and striatal toes. The pathogenesis of these deformities is a complex combination of central and peripheral influences such as rigidity, dystonia and degenerative skeletal changes. Duration of parkinsonism symptoms is an important risk factor and in majority of the patients these deformities are seen in advanced statge of the disease. The patients with such symptoms may initially respond to dopaminergic medications but if not intervened they may become fixed and difficult to treat. Pain and restriction of movement are most common clinical manifestations and these may mimick symptoms of musculoskeletal disorders like rheumatoid arthritis. Early diagnosis is important as the patients may respond to adjustment in dopaminergic medications. Recent advances such as deep brain stimulation (DBS) and ultrasound guided botulinum toxin injection are helpful in management of these deformities in patients with PD. [ABSTRACT FROM AUTHOR]
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- 2016
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13. Deep brain stimulation: Current status.
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Pandey, Sanjay and Sarma, Neelav
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DEEP brain stimulation , *BRAIN stimulation , *AFFECTIVE disorders , *MENTAL health services , *PARKINSON'S disease , *BRAIN diseases - Abstract
In the last two decades, applications of deep brain stimulation (DBS) have expanded rapidly in the field of neurosciences. The most common indications for DBS are Parkinson's disease, medically refractory seizures, essential tremors, and primary dystonia. This device has also been used as an investigational tool in patients having Tourette's syndrome, tardive dyskinesia, and refractory seizures. In the field of psychiatry, DBS has been used for the treatment of refractory obsessive compulsive disorder and depression. The complications are mainly related to surgery, the device, and its stimulation. This article provides an overview of the current status and recent advances in the field of DBS. [ABSTRACT FROM AUTHOR]
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- 2015
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14. Drooling in Parkinson's disease: a review.
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Srivanitchapoom, Prachaya, Pandey, Sanjay, and Hallett, Mark
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Parkinson's disease (PD) is a neurodegenerative disease causing both motor and non-motor symptoms. Drooling, an excessive pooling and spillover of saliva out of the oral cavity, is one of the non-motor symptoms in PD patients that produces various negative physical and psychosocial consequences for patients and their caregivers. At present, the pathophysiology of drooling in PD is not completely certain; however, impaired intra-oral salivary clearance is likely the major contributor. There are neither standard diagnostic criteria nor standard severity assessment tools for evaluating drooling in PD. In accordance with the possible pathophysiology, dopaminergic agents have been used to improve salivary clearance; however, these agents are not completely effective in controlling drooling. Various pharmacological and non-pharmacological treatment options have been studied. Local injection with botulinum toxin serotypes A and B into major salivary glands is most effective to reduce drooling. Future research to explore the exact pathophysiology and develop standard diagnostic criteria and standard severity assessment tools are needed to formulate specific treatment options and improve patient care. [ABSTRACT FROM AUTHOR]
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- 2014
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15. Botulinum toxin for the treatment of tremor.
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Mittal, Shivam Om and Pandey, Sanjay
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TREMOR , *BOTULINUM toxin , *BOTULINUM A toxins , *ESSENTIAL tremor , *VOCAL cords , *OLDER patients - Abstract
Tremor is one of the common movement disorders worldwide. In the recent classification tremor has been classified into two axes (I and II). Based on axis I feature tremor can be classified as isolated and combined tremor syndrome. Common tremor syndromes include Parkinsonism-associated tremors, essential tremor including essential tremor plus, dystonic tremors, and others. Tremor may also occur secondary to demyelinating, infectious and inflammatory diseases, and stroke. Adequate management of tremor has been an unmet need in clinical practice. Most of the anti-tremor medications have limited efficacy and are. associated with undesirable adverse effects, especially in elderly patients. Several studies have reported good outcomes with the use of botulinum neurotoxin for the treatment of tremor and it has emerged as a useful therapeutic option in tremor syndromes refractory to pharmacological agents. This review describes the role of botulinum neurotoxin in different tremor conditions. This article is part of the Special Issue "Tremor" edited by Daniel D. Truong, Mark Hallett, and Aasef Shaikh. • Botulinum toxin has been used in limb tremor and other tremor conditions. • Customized injection approach with use of electromyography, or kinematic techniques has resulted in lower rates of weakness. • Botulinum toxin injections are also found to be helpful in vocal cord tremor and head tremor. • Botulinum toxin in tremor conditions holds promise, and multi-centric prospective clinical trials are the need of the hour. [ABSTRACT FROM AUTHOR]
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- 2022
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16. Deep brain stimulation: Lessons learned in 25 years and future ahead.
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Pandey, Sanjay
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BRAIN stimulation , *NEUROSURGERY , *MOVEMENT disorders , *PARKINSON'S disease , *PSYCHIATRY - Abstract
Deep brain stimulation (DBS) is a major advancement in the field of functional neurosurgery in the last century. This treatment option is now utilized for many hyperkinetic and hypokinetic movement disorders and certain disorders in the field of psychiatry. The basis of treatment is a by-product of excellent advancement made in the field of basic neuroscience and technology. Due to the improvement in the field of neuroimaging, brain structures are now better localized leading to a better outcome. Newer sites of stimulations are being recognized, which may further improve the clinical outcome in patients. However, it is very important to stick to stringent inclusion and exclusion criteria while selecting patients for DBS to get the best results. [ABSTRACT FROM AUTHOR]
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- 2013
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17. Pramipexole associated dystonia.
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Pandey, Sanjay, Sarma, Neelav, and Jain, Shruti
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DYSTONIA , *PRAMIPEXOLE , *PATHOLOGICAL physiology , *DOPAMINE , *PARKINSON'S disease , *DOPAMINE agonists , *THIAZOLES - Published
- 2017
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18. Upper camptocormia in Parkinson's disease reversed by bilateral subthalamic deep brain stimulation.
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Pandey, Sanjay
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PARKINSON'S disease , *SUBTHALAMIC nucleus , *DEEP brain stimulation , *TREATMENT of spinal muscular atrophy , *DIENCEPHALON , *ARM , *SPINAL muscular atrophy , *DISEASE complications , *SPINAL curvatures , *PHYSIOLOGY , *THERAPEUTICS - Published
- 2017
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19. Pramipexole-associated fixed limb dystonia in Parkinson's disease.
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Pandey, Sanjay and Jain, Shruti
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PARKINSON'S disease treatment , *POSTURE disorders , *PRAMIPEXOLE , *DOPAMINE antagonists , *THERAPEUTICS , *DRUG therapy for Parkinson's disease , *THIAZOLES , *ANTIPARKINSONIAN agents , *DYSTONIA , *PARKINSON'S disease , *DISEASE complications - Published
- 2016
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20. Tongue Tremor in Acute Cortical Infarct.
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Pandey, Sanjay, Sarma, Neelav, and Jain, Shruti
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TREMOR , *MOVEMENT disorders , *TONGUE manifestations of general diseases , *NEUROLOGIC manifestations of general diseases , *PARKINSON'S disease , *MAGNETIC resonance imaging , *ELECTROMYOGRAPHY - Abstract
The article examines the case of a patient with acute onset tremulous movement of the tongue causing him difficulty in speaking and eating. The tremor of his tongue involved the entire tongue muscle and electromyography was administered. It mentions the mechanism of tongue tremor in the patient is similar to the palatal tremor or myoclonus. It also reveals further evidence of cortical involvement in palatal tremor patients has also been observed in functional magnetic resonance imaging studies.
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- 2016
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21. Novel and reported variants in Parkinson's disease genes confer high disease burden among Indians.
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Kumar, Sumeet, Yadav, Navneesh, Pandey, Sanjay, Muthane, Uday B., Govindappa, Shyla T., Abbas, Masoom M., Behari, Madhuri, and Thelma, B.K.
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PARKINSON'S disease , *GENETIC load , *RECESSIVE genes , *GENES , *DOMINANCE (Genetics) - Abstract
Background: Genetic heterogeneity in Parkinson's disease (PD) has been unambiguously reported across different populations. Assuming a higher genetic load, we tested variant burden in PD genes to an early onset PD cohort from India.Methods: Whole exome sequencing was performed in 250 PD patients recruited following MDS-UPDRS criteria. The number of rare variants in the 20 known PD genes per exome were used to calculate average rare variant burden with the 616 non-PD exomes available in-house as a comparison group. SKAT-O test was used for gene level analysis.Results: 80 patients harboured rare variants in 20 PD genes, of which six had known pathogenic variants accounting for 2.4% of the cohort. Of 80 patients, 12 had homozygous and nine had likely compound heterozygous variants in recessive PD genes and 59 had heterozygous variants in only dominant PD genes. Of the 16 novel variants of as yet unknown significance identified, four homozygous across ATP13A2, PRKN, SYNJ1 and PARK7; and 12 heterozygous among LRRK2, VPS35, EIF4G1 and CHCHD2 were observed. SKAT-O test suggested a higher burden in GBA (punadjusted = 0.002). Aggregate rare variant analysis including 75 more individuals with only heterozygous variants in recessive PD genes (excluding GBA), with an average of 0.85 protein-altering rare variants per PD patient exome versus 0.51 in the non-PD group, revealed a significant enrichment (p < 0.0001).Conclusion: This first study in an early onset PD cohort among Indians identified 16 novel variants in known genes and also provides evidence for a high genetic burden in this ethnically distinct population. [ABSTRACT FROM AUTHOR]- Published
- 2020
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22. Current opinions and practices in post-stroke movement disorders: Survey of movement disorders society members.
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Rodriguez-Porcel, Federico, Sarva, Harini, Joutsa, Juho, Falup-Pecurariu, Cristian, Shukla, Aparna Wagle, Mehanna, Raja, Śmiłowska, Katarzyna, Lanza, Giuseppe, Filipović, Saša R., Shalash, Ali, Ferris, Margaret, Jankovic, Joseph, Espay, Alberto J., and Pandey, Sanjay
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MOVEMENT disorders , *DEEP brain stimulation , *PARKINSON'S disease , *BASAL ganglia , *NEUROREHABILITATION - Abstract
Post-stroke movement disorders (PSMD) encompass a wide array of presentations, which vary in mode of onset, phenomenology, response to treatment, and natural history. There are no evidence-based guidelines on the diagnosis and treatment of PSMD. To survey current opinions and practices on the diagnosis and treatment of PSMD. A survey was developed by the PSMD Study Group, commissioned by the International Parkinson's and Movement Disorders Society (MDS). The survey, distributed to all members, yielded a total of 529 responses, 395 (74.7%) of which came from clinicians with experience with PSMD. Parkinsonism (68%), hemiballismus/hemichorea (61%), tremor (58%), and dystonia (54%) were by far the most commonly endorsed presentation of PSMD, although this varied by region. Basal ganglia stroke (76% of responders), symptoms contralateral to stroke (75%), and a temporal relationship (59%) were considered important factors for the diagnosis of PSMD. Oral medication use depended on the phenomenology of the PSMD. Almost 50% of respondents considered deep brain stimulation and ablative surgeries as options for treatment. The lack of guidelines for the diagnosis and treatment was considered the most important gap to address. Regionally varying opinions and practices on PSMD highlight gaps in (and mistranslation of) epidemiologic and therapeutic knowledge. Multicenter registries and prospective community-based studies are needed for the creation of evidence-based guidelines to inform the diagnosis and treatment of patients with PSMD. • Several practices on post-stroke movement disorders are supported by evidence. • Opinion-based practice leads to misdiagnosis and use of unnecessary treatments. • Standardized clinico-radiologic registries are necessary to establish evidence. [ABSTRACT FROM AUTHOR]
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- 2024
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23. Compound heterozygous variants in Wiskott-Aldrich syndrome like (WASL) gene segregating in a family with early onset Parkinson's disease.
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Kumar, Sumeet, Abbas, Masoom M., Govindappa, Shyla T., Muthane, Uday B., Behari, Madhuri, Pandey, Sanjay, Juyal, Ramesh C., and Thelma, B.K.
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PARKINSON'S disease , *WISKOTT-Aldrich syndrome , *GENE families , *JUVENILE idiopathic arthritis , *GENETIC disorders , *DEHYDRATION , *RESEARCH , *RESEARCH methodology , *MICROFILAMENT proteins , *EVALUATION research , *COMPARATIVE studies , *AGE factors in disease , *GENETIC techniques , *EPITHELIAL cells , *CELL lines , *GENEALOGY - Abstract
Background: Knowledge of genetic determinants in Parkinson's disease is still limited. Familial forms of the disease continue to provide a rich resource to capture the genetic spectrum in disease pathogenesis, and this approach is exploited in this study.Methods: Informative members from a three-generation family of Indian ethnicity manifesting a likely autosomal recessive mode of inheritance of Parkinson's disease were used for whole exome sequencing. Variant data analysis and in vitro functional characterisation of variant(s) segregating with the phenotype were carried out in HEK-293 and SH-SY5Y cells using gene constructs of interest.Results: Two compound heterozygous variants, a rare missense (c.1139C > T:p.P380L) and a novel splice variant (c.1456 + 2 delTAGA, intron10) in Wiskott-Aldrich syndrome like gene (WASL, 7q31), both predicted to be deleterious were shared among the proband and two affected siblings. WASL, a gene not previously linked to a human Mendelian disorder is known to regulate actin polymerisation via Arp2/3 complex. Based on exon trapping assay using pSPL3 vector in HEK-293 cells, the splice variant showed skipping of exon10. Characterisation of the missense variant in SH-SY5Y cells demonstrated: i) significant alterations in neurite length and number; ii) decreased reactive oxygen species tolerance in mutation carrying cells on Tetrabutylphosphonium hydroxide induction and iii) increase in alpha-synuclein protein. Screening for WASL variants in two independent PD cohorts identified four individuals with heterozygous but none with biallelic variants.Conclusion: WASL, with demonstrated functional relevance in neurons may be yet another strong candidate gene for autosomal recessive PD encouraging assessment of its contribution across populations. [ABSTRACT FROM AUTHOR]- Published
- 2021
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24. A review of movement disorders in persons living with HIV.
- Author
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Amod, Ferzana, Holla, Vikram V., Ojha, Rajeev, Pandey, Sanjay, Yadav, Ravi, and Pal, Pramod Kumar
- Subjects
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MYOCLONUS , *MOVEMENT disorders , *AIDS dementia complex , *HIV infections , *HIV , *PARKINSON'S disease , *DRUG side effects - Abstract
The human immunodeficiency virus (HIV) causes movement disorders in persons living with HIV (PLH). We conducted a systematic review on the spectrum of movement disorders in PLH using standard terms for each of the phenomenologies and HIV. Movement disorders in PLH were commonly attributed to opportunistic infections (OI), dopamine receptor blockade reactions, HIV-associated dementia (HAD), presented during seroconversion, developed due to drug reactions or antiretroviral therapy (ART) itself and lastly, movement disorders occurred as a consequence of the HIV-virus. Parkinsonism in ART naïve PLH was associated with shorter survival, however when Parkinsonism presented in PLH on ART, the syndrome was indistinguishable from Idiopathic Parkinson's disease and responded to therapy. Tremor was often postural due to HAD, drugs or OI. Generalized chorea was most frequent in HIV encephalopathy and toxoplasmosis gondii caused most cases of hemichorea. Ataxia was strongly associated with JCV infection, ART efavirenz toxicity or due to HIV itself. Dystonia was reported in HAD, secondary to drugs and atypical facial dystonias. Both cortical/subcortical and segmental/spinal origin myoclonus were noted mainly associated with HAD. In patients with HIV related opsoclonus-myoclonus-ataxia-syndrome, seroconversion illness was the commonest cause of followed by IRIS and CSF HIV viral escape phenomenon. Aetiology of movement disorders in PLH depend on the treatment state. Untreated, PLH are prone to develop OI and HAD and movement disorders. However, as the number of PLH on ART increase and survive longer, the frequency of ART and non-AIDS related complications are likely to increase. • Movement disorders due to OI and HAD have declined in the post-ART era. • OI and HIV infection are important causes of movement disorders in untreated patients. • Movement disorders in PLH may also associated with ART and DRB drugs. • Parkinson's disease in PLH present at an earlier age and responds well to levodopa and DBS. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
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