511 results on '"Pal PK"'
Search Results
152. An Overview of Noninvasive Brain Stimulation: Basic Principles and Clinical Applications.
- Author
-
Bhattacharya A, Mrudula K, Sreepada SS, Sathyaprabha TN, Pal PK, Chen R, and Udupa K
- Subjects
- Animals, Brain physiology, Humans, Stereotaxic Techniques, Transcranial Magnetic Stimulation methods, Nervous System Diseases therapy, Transcranial Direct Current Stimulation methods
- Abstract
The brain has the innate ability to undergo neuronal plasticity, which refers to changes in its structure and functions in response to continued changes in the environment. Although these concepts are well established in animal slice preparation models, their application to a large number of human subjects could only be achieved using noninvasive brain stimulation (NIBS) techniques. In this review, we discuss the mechanisms of plasticity induction using NIBS techniques including transcranial magnetic stimulation (TMS), transcranial direct current stimulation (tDCS), transcranial alternating current stimulation (tACS), random noise stimulation (RNS), transcranial ultrasound stimulation (TUS), vagus nerve stimulation (VNS), and galvanic vestibular stimulation (GVS). We briefly introduce these techniques, explain the stimulation parameters and potential clinical implications. Although their mechanisms are different, all these NIBS techniques can be used to induce plasticity at the systems level, to examine the neurophysiology of brain circuits and have potential therapeutic use in psychiatric and neurological disorders. TMS is the most established technique for the treatment of brain disorders, and repetitive TMS is an approved treatment for medication-resistant depression. Although the data on the clinical utility of the other modes of stimulation are more limited, the electrical stimulation techniques (tDCS, tACS, RNS, VNS, GVS) have the advantage of lower cost, portability, applicability at home, and can readily be combined with training or rehabilitation. Further research is needed to expand the clinical utility of NIBS and test the combination of different modes of NIBS to optimize neuromodulation induced clinical benefits.
- Published
- 2022
- Full Text
- View/download PDF
153. A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.
- Author
-
Pravinbabu P, Holla VV, Phulpagar P, Kamble N, Netravathi M, Yadav R, Pal PK, and Muthusamy B
- Subjects
- Adolescent, Humans, Male, Mutation genetics, Nucleotides, Refsum Disease, Charcot-Marie-Tooth Disease genetics, RNA Splice Sites genetics
- Abstract
Charcot-Marie-Tooth disease, type 4D (CMT4D) is a progressive, autosomal recessive form of CMT, characterized by distal muscle weakness and atrophy, foot deformities, severe motor sensory neuropathy, and sensorineural hearing impairment. Mutations in NDRG1 gene cause neuropathy in humans, dogs, and rodents. Here, we describe clinical and genetic features of a 17-year-old male with wasting of hand muscle and foot and severe motor neuropathy. Whole exome sequencing was carried out on the patient and his unaffected parents. We identified a novel deletion of nine nucleotides (c.537 + 2_537 + 10del) on the splice donor site of intron 8 in NDRG1 gene. The Sanger sequencing confirmed the segregation of this mutation in autosomal recessive inheritance. Furthermore, transcript analysis confirmed a splice defect and reveals using of an alternate cryptic splice donor site on the downstream intronic region. It resulted in an insertion of 42 nucleotides to exon 8 of NDRG1. Translation of the resulting transcript sequence revealed an insertion of 14 amino acids in-frame to the existing NDRG1 protein. This insertion is predicted to disrupt an alpha helix which is involved in protein-protein interactions in homologous proteins. Our study expands the clinical and genetic spectrum of CMT4D. The splice defect we found in this patient reveals a novel splice isoform of NDRG1 as the potential cause for the neuropathy observed in this patient., (© 2022. Fondazione Società Italiana di Neurologia.)
- Published
- 2022
- Full Text
- View/download PDF
154. Fever related super-refractory status epilepticus: An adulthood presentation of a novel POLG variant: A case report.
- Author
-
Menon D, Marasakatla S, Holla VV, Kamble N, M N, and Pal PK
- Subjects
- Adult, DNA Polymerase gamma genetics, Fever, Humans, Status Epilepticus genetics
- Published
- 2022
- Full Text
- View/download PDF
155. Clinical neurophysiology of Parkinson's disease and parkinsonism.
- Author
-
Chen R, Berardelli A, Bhattacharya A, Bologna M, Chen KS, Fasano A, Helmich RC, Hutchison WD, Kamble N, Kühn AA, Macerollo A, Neumann WJ, Pal PK, Paparella G, Suppa A, and Udupa K
- Abstract
This review is part of the series on the clinical neurophysiology of movement disorders. It focuses on Parkinson's disease and parkinsonism. The topics covered include the pathophysiology of tremor, rigidity and bradykinesia, balance and gait disturbance and myoclonus in Parkinson's disease. The use of electroencephalography, electromyography, long latency reflexes, cutaneous silent period, studies of cortical excitability with single and paired transcranial magnetic stimulation, studies of plasticity, intraoperative microelectrode recordings and recording of local field potentials from deep brain stimulation, and electrocorticography are also reviewed. In addition to advancing knowledge of pathophysiology, neurophysiological studies can be useful in refining the diagnosis, localization of surgical targets, and help to develop novel therapies for Parkinson's disease., Competing Interests: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Robert Chen received honoraria from Abbvie, Merz and Ipsen, outside of the submitted work. Alfonso Fasano received honoraria for his work as consultant for Abbvie, Abbott, Boston Scientific, Ipsen, Medtronic, and Sunovion; he sits in the advisory board for Abbvie, Boston Scientific, Ceregate, and Inbrain; received speaker fees from Abbvie, Abbott, American Academy of Neurology, Boston Scientific, Brainlab, Ipsen, Medtronic, Merz, Movement Disorders Society, Sunovion, Paladin Labs, and UCB; he received royalties from Springer and has received research grants from Abbvie, Boston Scientific, Dystonia Medical Research Foundation, University of Toronto, Michael J Fox Foundation, Medtronic, and the MSA coalition. Rick Helmich has served as a consultant for Roche Pharma. William D. Hutchison has received honoraria and travel support from Medtronic Inc. Andrea A. Kuhn: Personal fees from Medtronic, personal fees from Boston Scientific, personal fees from Abbott, personal fees from Ipsen Pharma, personal fees from Teva, outside the submitted work. The other authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2022 International Federation of Clinical Neurophysiology. Published by Elsevier B.V.)
- Published
- 2022
- Full Text
- View/download PDF
156. Surgical Outcomes in Rare Movement Disorders: A Report of Seventeen Patients from India and Review of Literature.
- Author
-
Dhar D, Holla VV, Kamble N, Yadav R, Srinivas D, and Pal PK
- Subjects
- Humans, India, Retrospective Studies, Treatment Outcome, Tremor etiology, Tremor surgery, Deep Brain Stimulation adverse effects, Dystonia etiology, Dystonic Disorders therapy, Hepatolenticular Degeneration, Movement Disorders etiology, Movement Disorders surgery
- Abstract
Background: Rare movement disorders (RMDs) throw remarkable challenges to their appropriate management particularly when they are medically refractory. We studied the outcome of functional neurosurgery among patients with RMDs., Methods: Retrospective chart-review from 2006 to 2021 of patients with RMDs who underwent either Deep brain Stimulation (DBS) or lesional surgeries in the department of Neurology and Neurosurgery at a tertiary care centre., Results: Seventeen patients were included. Generalized dystonia (11 patients, 64.7%) and tremor (5 patients, 29.4%) were the most common indication for surgery whereas, Wilson's disease (8 patients, 47.1%) and Neurodegeneration with brain iron accumulation (5 patients, 29.4%) were the most common aetiology. Sixteen patients (94.1%) had objective clinical improvement. Significant improvement was noted in the dystonia motor scores both at 6-months and 12-months follow-up (n = 11, p-value of <0.01 and 0.01 respectively). Comparison between DBS and lesional surgery showed no significant difference in the outcomes (p = 0.95 at 6-months and p = 0.53 at 12-months), with slight worsening of scores in the DBS arm at 12-months. Among five patients of refractory tremor with Wilson's disease, there was remarkable improvement in the tremor scores by 85.0 ± 7.8% at the last follow-up. Speech impairment was the main complication observed with most of the other adverse events either transient or reversible., Discussion: Surgical options should be contemplated among patients with disabling medically refractory RMDs irrespective of the aetiology. Key to success lies in appropriate patient selection. In situations when DBS is not feasible, lesional surgeries can offer an excellent alternative with comparable efficacy and safety., Competing Interests: The authors have no competing interests to declare., (Copyright: © 2022 The Author(s).)
- Published
- 2022
- Full Text
- View/download PDF
157. Ground-Level Pruning at Right Time Improves Flower Yield of Old Plantation of Rosa damascena Without Compromising the Quality of Essential Oil.
- Author
-
Shivani, Mahajan M, Thakur BK, and Pal PK
- Abstract
The essential oil of Rosa damascena is extensively used as a key natural ingredient in the perfume and cosmetic industries. However, the productivity and quality of rose oil are a big concern from the old plantation. It is hypothesized that rejuvenation of old rose plantations through ground-level pruning at right time could improve the yield of flowers and the quality of essential oil. Consequently, a field trial was led-out with 10 treatment conditions encompassing two pruning systems (ground-level pruning and ground-level pruning followed by top pruning at the end of December) and five different months of ground-level pruning (June-October) to understand the best pruning practices. In this experiment, the flower yield ranged from 18.32 to 62.40 q ha
-1 , and oil content varied from 0.035 to 0.049% under different pruning systems and months of pruning. Ground-level pruned plants, irrespective of the month, registered statistically ( p ≤ 0.05) more flower yield (618.62 and 473.29 g bush-1 ) compared with ground-level pruning followed by top pruned plants in both seasons. The average across the pruning system, ground-level pruning in October registered statistically ( p ≤ 0.05) greater yield of flowers (709.10 and 605.13 g bush-1 ) compared with the ground-level pruning from June to August. Despite significant variations in flower yield among the treatments, the percentage share of the major compounds particularly β-citronellol+nerol and geraniol in the essential oil were not affected ( p ≥ 0.05) by the pruning month and pruning system. Thus, the finding suggests that the production from the old plantation of R. damascena can be improved by ground-level pruning during October under mild-temperate conditions., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Shivani, Mahajan, Thakur and Pal.)- Published
- 2022
- Full Text
- View/download PDF
158. Subacute Sclerosing Panencephalitis Masquerading as Schizophrenia: An Example of Diagnostic Overshadowing in Neuropsychiatry.
- Author
-
Arora S, Jolly AJ, Suhas S, Arasappa R, Kamble N, Pal PK, and Varambally S
- Subjects
- Brain, Electroencephalography, Humans, Neuropsychiatry, Schizophrenia diagnosis, Subacute Sclerosing Panencephalitis diagnosis
- Published
- 2022
- Full Text
- View/download PDF
159. Long-Term Outcome of Hemimasticatory Spasm.
- Author
-
Ray S, Kamble N, Yadav R, and Pal PK
- Abstract
Objective: This study aims to identify the demographic, clinical, and therapeutic characteristics of four patients with hemimasticatory spasm (HMS) seen in our outpatient department over a period of 20 years., Methods: We performed a retrospective chart review of four patients with HMS who visited outpatient services in the Department of Neurology from 2001 to 2020., Results: The follow-up for all patients ranged from 2 years to 9 years. Three patients had facial or bucco-oral morphea. Two patients maintained long-term improvements in symptoms after being treated with botulinum toxin for 4-7 years, while one patient reported improvement in symptoms with treatment of carbamazepine that subsequently remitted after pregnancy., Conclusion: This report highlights the long-term outcome of HMS in our patients. Our patients reported a significant reduction or complete resolution of symptoms after treatment, and eventually, two patients were asymptomatic while off treatment.
- Published
- 2022
- Full Text
- View/download PDF
160. Retinal Changes in Parkinson's Disease: A Longitudinal Follow-up Study.
- Author
-
Mailankody P, Battu R, Lenka A, Mohammed Shereef PM, Thennarasu K, Yadav R, and Pal PK
- Subjects
- Cross-Sectional Studies, Follow-Up Studies, Humans, Retina diagnostic imaging, Tomography, Optical Coherence, Parkinson Disease complications, Parkinson Disease diagnostic imaging
- Abstract
Background: There is definite evidence for the involvement of retina in Parkinson's disease (PD). However, a specific pattern has not been clear due to the cross-sectional nature of the majority of the previous studies., Objective: The aim of this work was to study the pattern of changes in the retinal layers in patients with PD on longitudinal follow-up., Materials and Methods: Twelve patients with PD (23 eyes) were evaluated at baseline with complete history, clinical examination, Unified Parkinson's Disease Rating Scale (UPDRS) motor part, visual acuity, and retinal imaging with spectral-domain Optical Coherence Tomography. After a mean duration of 3.7 ± 0.46 years, patients were re-evaluated., Results: The Central Macular Thickness (CMT) of the right eye was found to be significantly thicker during the follow-up (P = 0.002). The outer retinal layer in the temporal quadrant at 0.5 centimeters from the fovea of the left eye was found to be significantly thinner (P = 0.001)., Conclusion: The serial evaluation of the retinal layers in patients with PD suggests a progressive loss of thickness of the outer retinal layer. The involvement of non-dopaminergic mechanisms, especially glutamatergic pathways, may be responsible for these changes., Competing Interests: None
- Published
- 2022
- Full Text
- View/download PDF
161. Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.
- Author
-
Holla VV, Neeraja K, Stezin A, Prasad S, Surisetti BK, Netravathi M, Kamble N, Yadav R, and Pal PK
- Abstract
Objective: With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology., Methods: This study was a retrospective chart review of patients with dystonia who had undergone CES for the evaluation of dystonia., Results: Forty-eight patients (35 males, 46 families) with dystonia were studied, with a mean age at onset of 16.0 ± 14.1 (1-58) years. A pathogenic/likely pathogenic variant was found in 20 patients (41.7%) among which 14 patients (29.2%) carried a novel variant. CES was more likely to detect a genetic diagnosis in patients with an early age at onset, i.e., ≤ 20 years., Conclusion: CES is a useful tool in the diagnostic evaluation of dystonia, with a yield of close to 40%. Patients with an earlier age at onset have a higher likelihood of having dystonia due to a genetic cause than those with a later age at onset.
- Published
- 2022
- Full Text
- View/download PDF
162. The association of saccadic abnormalities with rem sleep in patients with Huntington's disease.
- Author
-
Annapureddy J, Ray S, Kamble N, Kumar G, Pal PK, Dv S, Jain S, Kutty B, and Yadav R
- Subjects
- Humans, Polysomnography, Sleep, REM, Huntington Disease complications, Huntington Disease diagnosis, Sleep Initiation and Maintenance Disorders complications, Sleep Wake Disorders complications
- Abstract
Background: Huntington's disease (HD) is a progressive neurodegenerative disorder characterised by chorea, cognitive impairment, psychiatric and behavioral disturbances. Sleep disturbances including reduced REM sleep have been observed in HD., Objectives: The aim of the study was to study the polysomnography findings in HD and to assess whether oculomotor abnormalities are associated with poor REM sleep., Methods: Twenty-nine genetically confirmed HD patients underwent clinical evaluation including extraocular movement and OKN examination. Twenty-six patients and 15 controls underwent overnight video polysomnography (VPSG)., Results: VPSG of 23 HD patients and 13 controls were considered for analysis. Compared to controls, HD patients had higher median wake period and higher WASO percentage (p = 0.005). REM sleep percentage was reduced significantly in HD in comparison to controls (p < 0.001). Out of 23 patients, only two patients had REM sleep above 20% while 14 patients had REM sleep percentage less than 15%. Poor horizontal OKN (grades 2 and 3) was associated with the presence of low REM sleep percentage (REM sleep less than 15%) (p = 0.02). Low REM sleep was also associated with severe illness (UHDRS) (p = 0.038)., Conclusion: An association between decreased REM sleep and OKN abnormalities indicate that EOM abnormalities seen in HD could lead to errors in scoring REM sleep. To understand the actual degree of decreased REM sleep percentage will require additional parameters in AASM guidelines to score REM sleep in patients with EOM abnormalities like that seen in HD., (Copyright © 2021 Elsevier B.V. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
163. Deficits in Emotion Perception and Cognition in Patients with Parkinson's Disease: A Systematic Review.
- Author
-
Gothwal M, Arumugham SS, Yadav R, Pal PK, and Hegde S
- Abstract
Non-motor symptoms (NMS) are common among Parkinson's disease (PD) patients and have a significant impact on quality of life. NMS such as deficits in emotion perception are gaining due focus in the recent times. As emotion perception and cognitive functions share certain common neural substrates, it becomes pertinent to evaluate existing emotion perception deficits in view of underlying cognitive deficits. The current systematic review aimed at examining studies on emotion perception PD in the last decade. We carried out a systematic review of 44 studies from the PubMed database. We reviewed studies examining emotion perception and associated cognitive deficits, especially executive function and visuospatial function in PD. This review also examines how early and advanced PD differ in emotion perception deficits and how the presence of common neuropsychiatric conditions such as anxiety, apathy, and depression as well as neurosurgical procedure such as deep brain stimulation affect emotion perception. The need for future research employing a comprehensive evaluation of neurocognitive functions and emotion perception is underscored as it has a significant bearing on planning holistic intervention strategies., Competing Interests: There are no conflicts of interest., (Copyright: © 2022 Annals of Indian Academy of Neurology.)
- Published
- 2022
- Full Text
- View/download PDF
164. Disseminated Cysticercosis in Indian Scenario - Experience from a Teaching University Hospital.
- Author
-
Ganaraja HV, Mahadevan A, Saini J, Nalini A, Pal PK, Satishchandra P, and Netravathi M
- Subjects
- Adult, Animals, Hospitals, University, Humans, Middle Aged, Seizures, Young Adult, Cysticercosis diagnosis, Cysts, Neurocysticercosis diagnostic imaging, Neurocysticercosis drug therapy, Taenia solium
- Abstract
Background and Objectives: Neurocysticercosis (NCC) due to Taenia Solium is a major public health problem. Our objective was to study patients with disseminated cysticercosis (DCC) who had NCC in the brain along with an additional site in the body and assess their clinical, radiological profile, and response to therapy., Materials and Methods: A chart review of DCC with a high lesion load of NCC ≥20 (DNCC) in the brain was performed., Results: Sixteen (M:F = 13:3) patients were diagnosed with DNCC with a mean age of presentation of 35.1 ± 14.2 years. Headache was the predominant symptom, followed by seizures (93.75%), vomiting (43.75%), behavioral disturbances (31.25%), fever (12.5%), encephalopathy (12.5%), visual disturbances (6.25%), and muscle pain and limb weakness (6.25%). CT brain showed multiple active parenchymal cysts in all, and calcifications in 68.75%. MRI brain revealed involvement of cortex and subcortical structures in all, followed by cerebellum (81.25%) and brainstem (75%). Intramedullary spinal lesion was observed in 12.5% cases. Albendazole with steroids was used in 15 patients. In 93.3% patients, there was complete improvement in seizures; 12.5% subjects had persistent memory and behavioral abnormalities. One subject required decompressive craniectomy; mortality was observed in two subjects., Conclusions: We hereby report one of the largest case series on disseminated cysticercosis with a high lesion load of NCC in the brain. A comprehensive clinical, imaging, therapeutic response with repeat imaging and long-term follow-up has given us a better understanding of this difficult-to-treat neurological disorder. We suggest cautious use of anti-parasitic therapy under the cover of corticosteroids to prevent irreversible neurological sequelae., Competing Interests: None
- Published
- 2022
- Full Text
- View/download PDF
165. Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis.
- Author
-
Ganaraja VH, Holla VV, Stezin A, Kamble N, Yadav R, Purushottam M, Jain S, and Pal PK
- Subjects
- Ataxia, Cohort Studies, Female, Genetic Profile, Hospitals, Humans, Male, Nerve Tissue Proteins genetics, Retrospective Studies, Spinocerebellar Ataxias diagnostic imaging, Spinocerebellar Ataxias genetics, Tremor diagnostic imaging, Tremor genetics
- Abstract
Introduction: Spinocerebellar ataxia type-12 (SCA12) is a rare form of SCA, most commonly reported from the Indian Agarwal and related families. In this study we describe the clinical, genetic, and radiological characteristics of a sizeable cohort of genetically proven SCA12., Methods: A retrospective chart-review of the genetically confirmed SCA12 patients from our centre. The demographic, clinical, and investigation findings were reviewed. Correlation of expanded repeats length with various demographic and clinical features were studied., Results: A total of 49 patients (34 males, 42 families) were included of which 79.6% belonged to Agarwal community. The mean age at onset and age at presentation were 46.38 ± 11.7 years and 53.16 ± 12.78 years respectively. The most common initial symptom was tremor (73.5%), followed by ataxia (18.4%). At presentation, 95.9% of the patients had tremor with predominant distribution in the bilateral upper limbs (85.7%). At presentation, 73.5% of patients had ataxia and 22.4% had cognitive dysfunction. The mean CAG repeat length in PPP2R2B in the expanded allele was 53.26 ± 6.10 (40-72). The lowest pathogenic expanded repeat sizes in PPP2R2B recorded in our cohort was 40 & 42 repeats from two patients with a consistent clinical phenotype. Another unusual phenotype was the presence of prominent myoclonus. There was no significant correlation between the age at onset of symptoms and the repeat size of CAG repeat., Conclusion: SCA12 is not confined to a single ethnicity. Upper limb tremor and ataxia were the most common presentation. Unusual presentation may cause diagnostic confusion especially when recorded in patients from non- Aggarwal families., Competing Interests: The authors have no competing interests to declare., (Copyright: © 2022 The Author(s).)
- Published
- 2022
- Full Text
- View/download PDF
166. Chemical Diversity of Essential Oil of Valeriana jatamansi from Different Altitudes of Himalaya and Distillation Methods.
- Author
-
Thakur BK, Shivani, Mahajan M, and Pal PK
- Subjects
- Altitude, Distillation methods, Nardostachys, Oils, Volatile chemistry, Valerian chemistry
- Abstract
Valeriana jatamansi is an important temperate herb that is used in the pharmaceutical and essential oil industries. In India, this species is now on the verge of extinction due to the over-exploitation of its rhizomes from its natural habitat. It is hypothesized that the variations in bioactive compounds in its essential oil are very high among the wild populations as well as cultivated sources. Thus, this study was conducted to evaluate the chemical profiling of essential oil of four wild populations (Rupena, Kugti, Garola, and Khani) and two cultivated sources (CSIR-IHBT, Salooni), which were distilled at three consecutive days. The variation in oil concentration in roots/rhizomes was found significant ( p ≤ 0.05), and the maximum value (0.35%) was registered with the population collected from Kugti and Khani. In essential oil, irrespective of population and distillation day, patchouli alcohol was the major compound, which ranged from 19 to 63.1%. The maximum value (63.1%) was recorded with the essential oil obtained from Garola's population and distilled on the first day. The percentage of seychellene was abruptly increased with subsequent days of extraction in all the populations. The multivariate analysis revealed that the essential oil profiles of Rupena, Kugti, Garola, and CSIR-IHBT populations were found to be similar during the first day of distillation. However, during the second day, Rupena, Kugti, Khani, and CSIR-IHBT came under the same ellipse of 0.95% coefficient. The results suggest that the population of Kugti is superior in terms of oil concentration (0.35%), with a higher proportion of patchouli alcohol (63% on the first day). Thus, repeated distillation is recommended for higher recovery of essential oil. Moreover, repeated distillation can be used to attain V. jatamansi essential oil with differential and perhaps targeted definite chemical profile.
- Published
- 2022
- Full Text
- View/download PDF
167. Fibrinogen and Complement Factor H Are Promising CSF Protein Biomarkers for Parkinson's Disease with Cognitive Impairment─A Proteomics-ELISA-Based Study.
- Author
-
Naskar A, Stezin A, Dharmappa A, Hegde S, Philip M, Kamble N, Saini J, Sandhya K, Tatu U, Yadav R, Pal PK, and Alladi PA
- Subjects
- Animals, Biomarkers metabolism, Cognition, Complement Factor H, Enzyme-Linked Immunosorbent Assay, Fibrinogen, Humans, Mice, Mice, Inbred C57BL, Neuropsychological Tests, Proteomics, Cognitive Dysfunction diagnosis, Cognitive Dysfunction etiology, Parkinson Disease diagnosis
- Abstract
Parkinson's disease (PD) with cognitive impairment (PDCI) is essentially diagnosed through clinical and neuropsychological examinations. There is a need to identify biomarkers to foresee cognitive decline in them. We performed label-free unbiased nontargeted proteomics (Q-TOF LC/MS-MS) on the CSF of non-neurological control; PDCI; PD; and normal pressure hydrocephalus (NPH) patients, followed by targeted ELISA for validation. Of the 281 proteins identified, 42 were differentially altered in PD, PDCI, and NPH. With a certain overlap, 28 proteins were altered in PDCI and 25 proteins were altered in NPH. Five significantly upregulated proteins in PDCI were fibrinogen, gelsolin, complement factor-H, and apolipoproteins A-I and A-IV, whereas carnosine dipeptidase-1, carboxypeptidase-E, dickkopf-3, and secretogranin-3 precursor proteins were downregulated. Those uniquely altered in NPH were the insulin-like growth factor-binding protein, ceruloplasmin, α-1 antitrypsin, VGF nerve growth factor, and neural cell adhesion molecule L1-like protein. The ELISA-derived protein concentrations correlated with neuropsychological scores of certain cognitive domains. In PDCI, the Wisconsin card sorting percentile correlated negatively with fibrinogen. Intraperitoneal injection of native fibrinogen caused motor deficits in C57BL/6J mice as assessed by the pole test. Thus, a battery of proteins such as fibrinogen-α-chain, CFAH, and APOA-I/APOA-IV alongside neuropsychological assessment could be reliable biomarkers to distinguish PDCI and NPH.
- Published
- 2022
- Full Text
- View/download PDF
168. Generation of induced pluripotent stem cells (NIMHi004-A, NIMHi005-A and NIMHi006-A) from healthy individuals of Indian ethnicity with no mutation for Parkinson's disease related genes.
- Author
-
Jagtap S, Sowmithra, Yadav R, Pal PK, and Datta I
- Subjects
- Cellular Reprogramming, Ethnicity, Humans, Leukocytes, Mononuclear metabolism, Mutation genetics, Induced Pluripotent Stem Cells metabolism, Parkinson Disease genetics, Parkinson Disease metabolism
- Abstract
This study describes the generation and characterization of 3 induced pluripotent stem cell lines (iPSCs) generated by somatic reprogramming of peripheral blood mononuclear cells (PBMCs) obtained from healthy individuals. The reprogramming was carried out using non-integrating Sendai virus vectors expressing hKOS, hc-myc and hKlf4. The donors did not carry any mutations for a panel of 13 genes associated with occurrence and progression of Parkinson's disease (PD). These iPSC lines serve as age and gender matched control for the PD patient derived iPSC lines reported by us previously (Datta et al., 2020), neither did the samples have any chromosomal abnormalities., (Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
169. Genetic and Epigenetic Constructs of Progressive Supranuclear Palsy.
- Author
-
Debnath M, Dey S, Sreenivas N, Pal PK, and Yadav R
- Abstract
Background: Progressive supranuclear palsy (PSP) is a rapidly progressive primary tauopathy characterized by vertical gaze palsy, postural instability, and mild dementia. PSP shows high clinical and pathologic heterogeneity. Although a few risk factors exist, such as advanced age and environmental toxins, the precise etiology remains largely elusive. Compelling evidence now suggests that genetic background plays a pivotal role in the pathogenetic pathways of PSP. Notably, PSP is genetically and phenotypically a complex disorder. Given the tau pathology, several studies in the past have identified microtubule-associated protein tau ( MAPT ) gene mutations/variations and its haplotype as the major genetic risk factor of PSP, both in the sporadic and the familial forms. Subsequently, genome-wide association studies (GWAS) also identified several novel risk variants. However, these genetic risk determinants fail to explain the pathogenetic basis of PSP and its phenotypic spectrum in majority of the cases. Some genetic variants are known to confer the risk, while others seem to act as modifier genes., Summary: Besides the complex genetic basis of PSP, the pathobiological mechanisms, differential diagnosis, and management of patients with PSP have further been complicated by genetic conditions that mimic the phenotypes of PSP. This is now becoming increasingly apparent that interactions between genetic and environmental factors significantly contribute to PSP development. Further, the effect of environmental factors seems to be mediated through epigenetic modifications., Key Message: Herein, we provide a comprehensive overview of the genetic and epigenetic constructs of PSP and highlight the relevance of genetic and epigenetic findings in the pathobiology of PSP., Competing Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© 2022 Indian Academy of Neurosciences (IAN).)
- Published
- 2022
- Full Text
- View/download PDF
170. COVID-19 vaccine associated demyelination & its association with MOG antibody.
- Author
-
Netravathi M, Dhamija K, Gupta M, Tamborska A, Nalini A, Holla VV, Nitish LK, Menon D, Pal PK, Seena V, Yadav R, Ravindranadh M, Faheem A, Saini J, Mahadevan A, Solomon T, and Singh B
- Subjects
- Autoantibodies, COVID-19 Vaccines adverse effects, Female, Humans, Myelin-Oligodendrocyte Glycoprotein, SARS-CoV-2, COVID-19 prevention & control, Demyelinating Diseases chemically induced
- Abstract
Background: ChAdOx1-S (Covishield™/Vaxzervria, AstraZeneca) and BBV152 (Covaxin) SARS-CoV-2 vaccines are proven to be safe and effective, but rare complications have been reported., Objective: To describe reports of central nervous system (CNS) demyelination following ChAdOx1-S and BBV152 vaccinations., Methods & Results: We report 29 (17 female; mean 38 years) cases of CNS demyelination; twenty-seven occurred in temporal association with ChAdOx1-S vaccine; two in association with BBV152 vaccine. Eleven patients had presentation with myelitis, six patients developed optic neuritis, five had acute demyelinating encephalomyelitis, three presented with brainstem demyelination, and four had multiaxial involvement. Myelin oligodendrocyte glycoprotein (MOG) antibodies were positive in ten patients. One patient with ADEM and tumefactive demyelinating lesions died after a prolonged intensive care unit stay and superimposed infection. As compared to the control group (87); the postvaccinial cases were found to have a significantly higher mean age, presence of encephalopathy (p value:0.0007), CSF pleocytosis (p value: 0.0094) and raised CSF protein (p value: 0.0062)., Conclusions: It is difficult to establish a causal relationship between vaccination and neurological adverse events such as demyelination. The temporal association with the vaccination and the presence of MOG antibodies raises the possibility of an immunogenic process triggered by the vaccine in susceptible individuals., (Copyright © 2022. Published by Elsevier B.V.)
- Published
- 2022
- Full Text
- View/download PDF
171. Cortical excitability changes as a marker of cognitive impairment in Parkinson's disease.
- Author
-
Kamble N, Bhattacharya A, Hegde S, Vidya N, Gothwal M, Yadav R, and Pal PK
- Subjects
- Adult, Aged, Cognitive Dysfunction etiology, Female, Humans, Male, Middle Aged, Parkinson Disease complications, Transcranial Magnetic Stimulation, Cognitive Dysfunction physiopathology, Cortical Excitability physiology, Parkinson Disease physiopathology
- Abstract
Cognitive impairment of different severity with eventual progression to dementia in Parkinson's disease (PD) appears during the course of the disease. In this study, transcranial magnetic stimulation (TMS) was used to assess cortical excitability changes in PD patients with varying cognitive impairment. We aimed to identify the TMS parameters that could serve as a non-invasive marker of cognitive impairment in patients with PD. Consecutive PD patients were recruited in the study. Detailed neuropsychological assessment was carried out to identify PD without cognitive impairment (PD-nC), PD with mild cognitive impairment (PD-MCI) and PD with dementia (PDD). Twenty patients of PDD (2 females and 18 males), 20 PD-MCI (4 females and 16 males), 18 PD-nC (5 females, 13 males) and 18 healthy controls (4 females, and 14 males) were included in the study. All the participants underwent TMS with recording of resting motor threshold, central motor conduction time, silent period, short interval intracortical inhibition (SICI) and intracortical facilitation (ICF). All the groups were age matched. The SICI was present in all; however, significantly greater inhibition was noted in PDD (Mean±SD; 0.11 ± 0.08) followed by PD-MCI (0.31 ± 0.17), PD-nC (0.49 ± 0.26) and controls (0.61 ± 0.23; p < 0.001). The ICF was significantly reduced in PDD (Mean±SD; 0.15 ± 0.18), PD-MCI (0.55 ± 0.31), PD-nC (0.96 ± 0.59), when compared to healthy controls (1.81 ± 0.83; p < 0.001). Patients with PD-nC, PD-MCI and PDD had graded reduction in ICF and increasing intracortical inhibition as the disease progressed from PD-nC through PD-MCI to PDD. This suggests progressive overactivity of GABAergic transmission, glutaminergic deficiency with consequent reduction of cholinergic transmission leading to dementia., (Copyright © 2022 Elsevier B.V. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
172. Multimodal Brain Connectomics-Based Prediction of Parkinson's Disease Using Graph Attention Networks.
- Author
-
Safai A, Vakharia N, Prasad S, Saini J, Shah A, Lenka A, Pal PK, and Ingalhalikar M
- Abstract
Background: A multimodal connectomic analysis using diffusion and functional MRI can provide complementary information on the structure-function network dynamics involved in complex neurodegenerative network disorders such as Parkinson's disease (PD). Deep learning-based graph neural network models generate higher-level embeddings that could capture intricate structural and functional regional interactions related to PD., Objective: This study aimed at investigating the role of structure-function connections in predicting PD, by employing an end-to-end graph attention network (GAT) on multimodal brain connectomes along with an interpretability framework., Methods: The proposed GAT model was implemented to generate node embeddings from the structural connectivity matrix and multimodal feature set containing morphological features and structural and functional network features of PD patients and healthy controls. Graph classification was performed by extracting topmost node embeddings, and the interpretability framework was implemented using saliency analysis and attention maps. Moreover, we also compared our model with unimodal models as well as other state-of-the-art models., Results: Our proposed GAT model with a multimodal feature set demonstrated superior classification performance over a unimodal feature set. Our model demonstrated superior classification performance over other comparative models, with 10-fold CV accuracy and an F1 score of 86% and a moderate test accuracy of 73%. The interpretability framework highlighted the structural and functional topological influence of motor network and cortico-subcortical brain regions, among which structural features were correlated with onset of PD. The attention maps showed dependency between large-scale brain regions based on their structural and functional characteristics., Conclusion: Multimodal brain connectomic markers and GAT architecture can facilitate robust prediction of PD pathology and provide an attention mechanism-based interpretability framework that can highlight the pathology-specific relation between brain regions., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Safai, Vakharia, Prasad, Saini, Shah, Lenka, Pal and Ingalhalikar.)
- Published
- 2022
- Full Text
- View/download PDF
173. Erratum: Speech Characteristics of Patients with Parkinson's Disease-Does Dopaminergic Medications Have a Role?
- Author
-
Vandana VP, Darshini JK, Vikram VH, Nitish K, Pal PK, and Ravi Y
- Abstract
[This corrects the article DOI: 10.1055/s-0041-1735249.]., (Association for Helping Neurosurgical Sick People. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ).)
- Published
- 2022
- Full Text
- View/download PDF
174. Cognition in Patients With Multiple System Atrophy (MSA) and Its Neuroimaging Correlation: A Prospective Case-Control Study.
- Author
-
Dash S, Mahale R, Netravathi M, Kamble NL, Holla V, Yadav R, and Pal PK
- Abstract
Objective Cognition has been reported to be involved in patients with multiple system atrophy (MSA), although initially it was considered an exclusion in the diagnosis of MSA. We assessed cognition in these patients and compared it with age and education matched healthy controls and correlated with the gray matter volume using voxel-based morphometry (VBM). Materials and methods This was a prospective, case-control, single-center study. Thirty patients with MSA (20 MSA-C (cerebellar variant) and 10 MSA-P (Parkinsonian variant)) and 25 age- and educational level-matched healthy controls were included. All the patients and controls underwent detailed neuropsychological tests and MRI brain. A battery of neuropsychological tests like Stroop test, digit span forward and backward, digit symbol substitution time test, animal naming test, color trail test and auditory verbal learning test were used to assess the various domain of cognition, which include mainly attention, executive function, memory, new learning, mental and motor speed. The gray matter volume was determined using VBM and correlated with neuropsychological scores. Results Attention, execution, verbal and visual memory, verbal fluency, and new learning were impaired in patients with MSA. MSA-P had more impairment in motor and mental speed, working memory, executive functions, and focused attention compared to MSA-C. Patients with MSA-C had more impairment in new learning, immediate recall, verbal fluency, and sustained attention compared to MSA-P. However, it was not statistically significant. There was a significant correlation between the various cognitive domains and atrophy of frontotemporal cortical areas, insula, caudate, thalamus, and cerebellum. Conclusion Cognition is impaired in patients with MSA-C and MSA-P and is likely due to the neurodegenerative process involving the cortical and subcortical structures. Long-term follow-up studies are required to find out the progression of these cognitive changes., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Dash et al.)
- Published
- 2022
- Full Text
- View/download PDF
175. In Reply to the Letter to the Editor Regarding "Cervical Myeloradiculopathy and Atlantoaxial Instability in Cervical Dystonia".
- Author
-
Holla VV, Neeraja K, Prasad S, Surisetti BK, Sharma D, Kamble N, Kulanthaivelu K, Dwarakanth S, Pruthi N, Pal PK, and Yadav R
- Subjects
- Humans, Atlanto-Axial Joint diagnostic imaging, Atlanto-Axial Joint surgery, Joint Instability diagnostic imaging, Joint Instability surgery, Spinal Cord Diseases diagnostic imaging, Torticollis
- Published
- 2022
- Full Text
- View/download PDF
176. Spinocerebellar ataxia recessive type 7 due to novel compound heterozygous variants in TPP1: First report from India.
- Author
-
Holla VV, Jha S, Pal PK, Yadav R, Phulpagar P, Muthusamy B, and Arunachal G
- Subjects
- Humans, India, Mutation genetics, Cerebellar Ataxia, Spinocerebellar Ataxias genetics
- Published
- 2022
- Full Text
- View/download PDF
177. Clinical Study of 668 Indian Subjects with Juvenile, Young, and Early Onset Parkinson's Disease.
- Author
-
Kukkle PL, Goyal V, Geetha TS, Mridula KR, Kumar H, Borgohain R, Mukherjee A, Wadia PM, Yadav R, Desai S, Kumar N, Gupta R, Biswas A, Pal PK, Muthane U, Das SK, Quinn N, and Ramprasad VL
- Subjects
- Age of Onset, Brain, Humans, Dyskinesias, Dystonia, Parkinson Disease diagnosis, Parkinson Disease epidemiology, Parkinsonian Disorders
- Abstract
Objective: To determine the demographic pattern of juvenile-onset parkinsonism (JP, <20 years), young-onset (YOPD, 20-40 years), and early onset (EOPD, 40-50 years) Parkinson's disease (PD) in India., Materials and Methods: We conducted a 2-year, pan-India, multicenter collaborative study to analyze clinical patterns of JP, YOPD, and EOPD. All patients under follow-up of movement disorders specialists and meeting United Kingdom (UK) Brain Bank criteria for PD were included., Results: A total of 668 subjects (M:F 455:213) were recruited with a mean age at onset of 38.7 ± 8.1 years. The mean duration of symptoms at the time of study was 8 ± 6 years. Fifteen percent had a family history of PD and 13% had consanguinity. JP had the highest consanguinity rate (53%). YOPD and JP cases had a higher prevalence of consanguinity, dystonia, and gait and balance issues compared to those with EOPD. In relation to nonmotor symptoms, panic attacks and depression were more common in YOPD and sleep-related issues more common in EOPD subjects. Overall, dyskinesias were documented in 32.8%. YOPD subjects had a higher frequency of dyskinesia than EOPD subjects (39.9% vs. 25.5%), but they were first noted later in the disease course (5.7 vs. 4.4 years)., Conclusion: This large cohort shows differing clinical patterns in JP, YOPD, and EOPD cases. We propose that cutoffs of <20, <40, and <50 years should preferably be used to define JP, YOPD, and EOPD.
- Published
- 2022
- Full Text
- View/download PDF
178. Parkinson's disease: Alterations of motor plasticity and motor learning.
- Author
-
Udupa K, Bhattacharya A, Bhardwaj S, Pal PK, and Chen R
- Subjects
- Evoked Potentials, Motor, Gait, Humans, Neuronal Plasticity, Transcranial Magnetic Stimulation, Motor Cortex, Parkinson Disease therapy, Transcranial Direct Current Stimulation
- Abstract
This chapter reviews the alterations in motor learning and motor cortical plasticity in Parkinson's disease (PD), the most common movement disorder. Impairments in motor learning, which is a hallmark of basal ganglia disorders, influence the performance of motor learning-related behavioral tasks and have clinical implications for the management of disturbance in gait and posture, and for rehabilitative management of PD. Although plasticity is classically induced and assessed in sliced preparation in animal models, in this review we have concentrated on the results from non-invasive brain stimulation techniques such as transcranial magnetic stimulation (TMS), transcranial alternating current stimulation (tACS) and transcranial direct current stimulation (tDCS) in patients with PD, in addition to a few animal electrophysiologic studies. The chapter summarizes the results from different cortical and subcortical plasticity investigations. Plasticity induction protocols reveal deficient plasticity in PD and these plasticity measures are modulated by medications and deep brain stimulation. There is considerable variability in these measures that are related to inter-individual variations, different disease characteristics and methodological considerations. Nevertheless, these pathophysiologic studies expand our knowledge of cortical excitability, plasticity and the effects of different treatments in PD. These tools of modulating plasticity and motor learning improve our understanding of PD pathophysiology and help to develop new treatments for this disabling condition., (Copyright © 2022 Elsevier B.V. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
179. Modulatory effect of continuous theta burst stimulation in patients with essential tremor.
- Author
-
Batra D, Kamble N, Bhattacharya A, Sahoo L, Yadav R, and Pal PK
- Subjects
- Adult, Evoked Potentials, Motor physiology, Humans, Middle Aged, Transcranial Magnetic Stimulation, Tremor, Essential Tremor therapy, Motor Cortex
- Abstract
Introduction: We aimed to study the cortical and intracortical functions in patients of ET using transcranial magnetic stimulation (TMS) and to evaluate the effect of continuous theta burst stimulation (cTBS) on the tremor characteristics., Methods: Ten ET and 20 healthy controls were included in the study. All the participants were evaluated with TMS with recording of resting motor threshold (RMT), central motor conduction time, contralateral silent period (cSP), short interval intracortical inhibition (SICI) and intracortical facilitation (ICF). Subsequently only ET patients underwent cTBS of the motor cortex (M1) followed by repeat TMS., Results: The mean age of the patients (46.5 ± 17.2 years) was comparable to healthy controls (55.4 ± 9.2 years; p = 0.16). There was a non-significant increase in RMT in ET patients (44 ± 12.5%) when compared to healthy controls (40.9 ± 6.9%; p = 0.48). There was a significant reduction of cSP in the ET group (102.03 ± 15.26 msec) compared to healthy controls (116.1 ± 15.2, p = 0.03). In addition, a significant reduction in ICF was observed in ET patients (0.9 ± 0.7) compared to healthy controls (1.8 ± 0.8, p = 0.01). Following cTBS there was a significant reduction in the tremor scores [FTMRS (Pre-cTBS: 29.3 ± 18.7, Post-cTBS: 25.3 ± 16.8; p < 0.001) and TETRAS (pre-cTBS: 34.4 ± 16.2, post-cTBS: 29.8 ± 12.1; p = 0.01)] and improvement (increase) of the duration of cSP (pre-cTBS: 102.03 ± 15.3 msec., post-cTBS: 119.4 ± 12.03 msec; p = 0.05)., Conclusions: Patients with ET have GABAergic and glutaminergic dysfunction as demonstrated by reduced cSP and ICF. However, only the cSP improved following cTBS of M1 region, with a corresponding improvement of tremor severity suggesting the effect of cTBS on the cerebello-thalamo-cortical network., (Copyright © 2021 Elsevier Ltd. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
180. Dystonia in Performing Artists: Beyond Focal Hand Dystonia.
- Author
-
Ray S and Pal PK
- Subjects
- Facial Muscles, Hand, Humans, Dystonia, Dystonic Disorders diagnosis, Music
- Abstract
Overuse of specific muscles in perfecting movements in performing arts makes an artist prone to many medical conditions. Musicians' hand dystonia is focal task-specific dystonia (FTSD) of hand among musicians that has been extensively studied. However, embouchure, lower limbs, and laryngeal muscles can also be affected among musicians. Embouchure dystonia (ED) refers to dystonia of the perioral and facial muscles that occurs in musicians while playing embouchure instruments. It is essential to identify ED since the dystonia might become persistent and non-task-specific if the musician continues to play the instrument. Task-specific dystonia of lower limbs among musicians has been exclusively reported among drummers. The diagnosis rests on electromyogram (EMG) of the involved muscles during the task. Singer's dystonia (SD) refers to task-specific laryngeal dystonia that occurs only while singing. The diagnosis of SD is based on laryngeal EMG and spectrographic analysis. Cortical hyperexcitability, loss of inhibition, and aberrant plasticity are central to the pathogenesis in both ED and musicians' hand dystonia. The pathophysiological studies in SD are limited. This review aims to discuss the lesser known dystonias among performing artists - ED, FTSD of lower limb, and SD.
- Published
- 2022
- Full Text
- View/download PDF
181. Neurological effects of respiratory dysfunction.
- Author
-
Holla VV, Prasad S, and Pal PK
- Subjects
- Carbon Dioxide, Humans, Hypoxia, Respiration, Chemoreceptor Cells, Hypercapnia
- Abstract
The respiratory and the nervous systems are closely interconnected and are maintained in a fine balance. Central mechanisms maintain strict control of ventilation due to the high metabolic demands of brain which depends on a continuous supply of oxygenated blood along with glucose. Moreover, brain perfusion is highly sensitive to changes in the partial pressures of carbon dioxide and oxygen in blood, which in turn depend on respiratory function. Ventilatory control is strictly monitored and regulated by the central nervous system through central and peripheral chemoreceptors, baroreceptors, the cardiovascular system, and the autonomic nervous system. Disruption in this delicate control of respiratory function can have subtle to devastating neurological effects as a result of ensuing hypoxia or hypercapnia. In addition, pulmonary circulation receives entire cardiac output and this may act as a conduit to transmit infections and also for metastasis of malignancies to brain resulting in neurological dysfunction. Furthermore, many neurological paraneoplastic syndromes can have underlying lung malignancies resulting in respiratory dysfunction. It is essential to understand the underlying mechanisms and the resulting manifestations in order to prevent and effectively manage the many neurological effects of respiratory dysfunction. This chapter explores the various neurological effects of respiratory dysfunction with focus on their pathophysiology, etiologies, clinical features and long-term neurological sequelae., (Copyright © 2022 Elsevier B.V. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
182. Impact of Disrupted Botulinum Toxin Therapy in Movement Disorders Due to COVID-19 Pandemic.
- Author
-
Neeraja K, Surisetti BK, Mol N, Prasad S, Holla VV, Kamble N, Mahale R, Pal PK, and Yadav R
- Abstract
Competing Interests: There are no conflicts of interest.
- Published
- 2021
- Full Text
- View/download PDF
183. Clinical characteristics, treatment and long-term prognosis in patients with anti-NMDAR encephalitis.
- Author
-
Raja P, Shamick B, Nitish LK, Holla VV, Pal PK, Mahadevan A, Thomas PT, Maya B, Saini J, Shantala H, and Netravathi M
- Subjects
- Adult, Child, Female, Humans, Magnetic Resonance Imaging, Neoplasm Recurrence, Local, Prognosis, Treatment Outcome, Anti-N-Methyl-D-Aspartate Receptor Encephalitis diagnostic imaging, Anti-N-Methyl-D-Aspartate Receptor Encephalitis therapy
- Abstract
Objectives: We aimed to (i) analyse the clinical characteristics, treatment outcome and long-term prognosis of anti-NMDAR encephalitis and (ii) study the differences between paediatric and adult patients., Methods: This was a chart review of all patients with anti-NMDAR encephalitis., Results: There were 28 patients with 18 patients belonging to the paediatric (<18 years) age group. There was female (94%) preponderance in the paediatric age group, while in adult patients, there was no gender predilection (p=0.006). There was no significant difference in clinical feature, outcome or number of relapses between paediatric and adult population groups. MRI brain was abnormal in 53% of patients. Among the 15 patients with MRI abnormalities at the onset, 53% had poor functional outcome at 1 year, while in 12 patients with normal initial MRI brain, only 8% had poor functional outcome at 1 year (p =0.01). Nearly 53% of patients with abnormal MRI at presentation had at least one clinical relapse within 2 years while in patients with normal MRI at presentation, 15% had a clinical relapse (p=0.037). EEG abnormalities were noticed in 71% of patients; among them, 40 and 15% had poor functional outcome at 1 and 2 years respectively. In comparison, those with normal first EEG at onset, 12% had poor functional outcome at 2 years (p=0.57)., Conclusions: Both paediatric and adult patients presented with similar clinical features but the paediatric population had female preponderance. The functional outcome and number of relapse were comparable in both the paediatric and adult groups. Patients with parenchymal changes on MRI and abnormal EEG showed poorer response compared to those with normal MRI and/or EEG at the onset. Patients have lesser severity of symptoms at relapse than in the first episode. An early diagnosis and treatment are essential for better long-term functional outcome., (© 2021. Fondazione Società Italiana di Neurologia.)
- Published
- 2021
- Full Text
- View/download PDF
184. Impact of COVID-19 on Patient Care, Training, and Research in Movement Disorders in MDS-AOS Region.
- Author
-
Prasad S, Kumar H, Bhidayasiri R, and Pal PK
- Subjects
- Humans, Patient Care, SARS-CoV-2, Apraxias, COVID-19, Movement Disorders therapy
- Published
- 2021
- Full Text
- View/download PDF
185. Radiomics on routine T1-weighted MRI can delineate Parkinson's disease from multiple system atrophy and progressive supranuclear palsy.
- Author
-
Tupe-Waghmare P, Rajan A, Prasad S, Saini J, Pal PK, and Ingalhalikar M
- Subjects
- Humans, Magnetic Resonance Imaging, Multiple System Atrophy diagnostic imaging, Parkinson Disease diagnostic imaging, Parkinsonian Disorders diagnostic imaging, Supranuclear Palsy, Progressive diagnostic imaging
- Abstract
Objectives: This study aimed to explore the feasibility of radiomics features extracted from T1-weighted MRI images to differentiate Parkinson's disease (PD) from atypical parkinsonian syndromes (APS)., Methods: Radiomics features were computed from T1 images of 65 patients with PD, 61 patients with APS (31: progressive supranuclear palsy and 30: multiple system atrophy), and 75 healthy controls (HC). These features were extracted from 19 regions of interest primarily from subcortical structures, cerebellum, and brainstem. Separate random forest classifiers were applied to classify different groups based on a reduced set of most important radiomics features for each classification as determined by the random forest-based recursive feature elimination by cross-validation method., Results: The PD vs HC classifier illustrated an accuracy of 70%, while the PD vs APS classifier demonstrated a superior test accuracy of 92%. Moreover, a 3-way PD/MSA/PSP classifier performed with 96% accuracy. While first-order and texture-based differences like Gray Level Co-occurrence Matrix (GLCM) and Gray Level Difference Matrix for the substantia nigra pars compacta and thalamus were highly discriminative for PD vs HC, textural features mainly GLCM of the ventral diencephalon were highlighted for APS vs HC, and features extracted from the ventral diencephalon and nucleus accumbens were highlighted for the classification of PD and APS., Conclusions: This study establishes the utility of radiomics to differentiate PD from APS using routine T1-weighted images. This may aid in the clinical diagnosis of PD and APS which may often be indistinguishable in early stages of disease., Key Points: • Radiomics features were extracted from T1-weighted MRI images. • Parkinson's disease and atypical parkinsonian syndromes were classified at an accuracy of 92%. • This study establishes the utility of radiomics to differentiate Parkinson's disease and atypical parkinsonian syndromes using routine T1-weighted images., (© 2021. European Society of Radiology.)
- Published
- 2021
- Full Text
- View/download PDF
186. Synthesis and reactivity of NHC-coordinated phosphinidene oxide.
- Author
-
Dhara D, Pal PK, Dolai R, Chrysochos N, Rawat H, Elvers BJ, Krummenacher I, Braunschweig H, Schulzke C, Chandrasekhar V, Priyakumar UD, and Jana A
- Abstract
Here we report the synthesis of an N-heterocyclic carbene (NHC)-stabilised phosphinidene oxide by the controlled oxygenation of a phosphinidene under ambient conditions. This compound can be further oxygenated to a phosphinidene dioxide. The stoichiometric reduction of a phosphinidene oxide with KC
8 resembles the pinacol coupling reaction-the reduction of a carbonyl compound. We also looked at the stoichiometric oxidation of NHC-coordinated phosphinidene, phosphinidene oxide and phosphinidene dioxide with [NO][SbF6 ].- Published
- 2021
- Full Text
- View/download PDF
187. Phonatory Characteristics of Male Patients with Classic Essential Tremor.
- Author
-
Akkunje PS, Yamini BK, Yadav R, Shivashankar N, Malo PK, Thennarasu K, Hegde S, and Pal PK
- Abstract
Objective: Voice tremor (VT) is one of the characteristics of essential tremor (ET). This study was designed to describe the group and phonatory characteristics of classic ET patients with VT., Methods: This retrospective case-control study compared classic ET patients with age and sex-matched controls. The ET population was subgrouped based on auditory perceptual voice analysis. Electroglottography and acoustic voice samples obtained from both groups were analyzed for contact quotient (CQ) and multidimensional voice program parameters, i.e., fundamental frequency (F0), perturbation, noise, and tremor parameters., Results: The CQ, F0, perturbation, noise, and tremor characteristics significantly increased from the moderate VT group to the severe VT group., Conclusion: The CQ, F0, and noise characteristics reflected the vocal folds' functionality. The perturbation and tremor parameters variation were reasoned considering the tremor-related changes occurring in the laryngeal, vocal tract, and expiratory muscles in patients with ET. Thus, phonatory analysis may help in monitoring the progression of ET.
- Published
- 2021
- Full Text
- View/download PDF
188. Clinical and Imaging Profile of Patients with Joubert Syndrome.
- Author
-
Surisetti BK, Holla VV, Prasad S, Neeraja K, Kamble N, Yadav R, and Pal PK
- Abstract
Objective: Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS., Methods: This was a retrospective chart review of patients with JS evaluated by movement disorder specialists., Results: Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes., Conclusion: Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.
- Published
- 2021
- Full Text
- View/download PDF
189. The Rationale of Yoga in Parkinson's Disease: A Critical Review.
- Author
-
Mailankody P, Varambally S, Thennarasu K, and Pal PK
- Subjects
- Anxiety, Gait, Humans, Quality of Life, Parkinson Disease therapy, Yoga
- Abstract
Background: Patients with Parkinson's disease (PD) commonly use complementary and alternative medications. Yoga is a mind-body intervention that is being increasingly explored as a tool in the therapeutic armamentarium of PD., Objective: To critically evaluate the studies and summarize the utility of Yoga in PD., Material and Methods: We performed a systematic literature search in the Medline and Cochrane databases and included randomized controlled trials (RCT) of Yoga in PD. The studies were evaluated for internal validity and the relevant data were extracted., Results: A total of seven studies were included in the analysis. We collated the data on the changes in motor function, gait and balance parameters, anxiety, depression and quality of life scores observed after intervention (Yoga) in patients with PD and highlighted the limitations of these studies., Conclusion: Anxiety, depression, and balance issues in PD may benefit from Yoga. Yoga has potential as an add-on therapy in PD., Competing Interests: None
- Published
- 2021
- Full Text
- View/download PDF
190. Atypical Phenotype in a Spinocerebellar Ataxia Type 2 Kindred.
- Author
-
Prasad S, Holla VV, and Pal PK
- Subjects
- Age of Onset, Humans, Phenotype, Cerebellar Ataxia, Spinocerebellar Ataxias diagnostic imaging, Spinocerebellar Ataxias genetics
- Abstract
Background: Non-ataxic manifestations in autosomal dominant cerebellar ataxias are variable and influenced by CAG repeat length and age at onset. This report describes a genetically proven SCA2 kindred with an atypical phenotype resembling SCA3., Case Report: The phenotype of five genetically proven patients with SCA2 in this report differed from the typical phenotype owing to persistence of reflexes late into the course of illness, absence of peripheral neuropathy, and very prominent facial twitches., Discussion: Despite descriptions of typical phenotypes of SCA, significant variations occur, especially within kindreds. Caution should be exercised in clinical diagnoses of SCA, especially with atypical features., Competing Interests: The authors have no competing interests to declare., (Copyright: © 2021 The Author(s).)
- Published
- 2021
- Full Text
- View/download PDF
191. Does gender differences have a role in determining sleep quality in Parkinson's disease?
- Author
-
Mahale R, Yadav R, and Pal PK
- Subjects
- Adult, Aged, Female, Humans, Male, Mental Status and Dementia Tests standards, Middle Aged, Parkinson Disease psychology, Sleep Wake Disorders psychology, Parkinson Disease diagnosis, Parkinson Disease physiopathology, Sex Characteristics, Sleep Quality, Sleep Wake Disorders diagnosis, Sleep Wake Disorders physiopathology
- Abstract
Objectives: Sleep disturbances in Parkinson's disease (PD) are common. Non -motor symptoms including sleep disturbance have gender difference in PD. The objective is to determine gender differences in PD in relation to the sleep quality., Patients and Methods: 156 patients with PD with males (n = 119) and females (n = 37) were included. The sleep quality and sleep disturbances were assessed using Pittsburgh sleep quality index (PSQI), Parkinson's disease Sleep Scale (PDSS) and Epworth Sleep Scale (ESS)., Results: Females with PD had higher frequency with insomnia (56.7%) as compared to males with PD (44.5%) (p = 0.05), nightmares (32.4%) as compared to males with PD (16.8%) (p = 0.04), greater PSQI component score of habitual sleep efficiency (p = 0.008), sleep disturbance (p = 0.03) and daytime dysfunction (p = 0.02), greater global PSQI score (p = 0.03), higher percentage of patients with global PSQI score > 5 (64.8%) than males with PD (41.1%) (p = 0.01), suggesting poor quality of sleep in females with PD. Higher total ESS score (p = 0.03), higher frequency of females with PD with total ESS score > 10 (45.9%) than in males with PD (26.9%) (p = 0.02), and lower total PDSS score (p = 0.009). On correlation analysis, the global PSQI score in females with PD had strong positive correlation with duration of PD, HAM-A and HAM-D scores and negative correlation with MMSE scores., Conclusions: Females with PD had a poor sleep quality with higher frequency of insomnia, nightmares, and daytime sleepiness. The longer duration of PD, higher scores of anxiety and depression scale and lower MMSE scores are associated with poor sleep quality in females with PD., (© 2020. Belgian Neurological Society.)
- Published
- 2021
- Full Text
- View/download PDF
192. The Spectrum of Movement Disorders in Neuroacanthocytosis Syndromes: A Video Series.
- Author
-
Neeraja K, Prasad S, Holla VV, Kamble N, Yadav R, and Pal PK
- Abstract
Competing Interests: The authors declare that there are no conflicts of interest relevant to this work. No specific funding was received for this work.
- Published
- 2021
- Full Text
- View/download PDF
193. Pediatric Functional Movement Disorders: Experience from a Tertiary Care Centre.
- Author
-
Rakesh K, Kamble N, Yadav R, Bhattacharya A, Holla VV, Netravathi M, Seshadri S, and Pal PK
- Subjects
- Child, Female, Humans, Male, Retrospective Studies, Tertiary Care Centers, Tremor, Dyskinesias, Movement Disorders epidemiology
- Abstract
Objectives: Functional movement disorders (FMDs) pose significant diagnostic and management challenges. We aimed to study the socioeconomic and cultural factors, underlying psychopathology and the phenomenology of FMDs in children., Methods: The study is a retrospective chart review of 39 children (16 girls and 23 boys) who attended our neurology OPD and the movement disorders clinic at the National Institute of Mental Health and Neurosciences (NIMHANS) between January 2011 and May 2020. The diagnosis of FMD was based on Fahn and Williams criteria and the patients were either diagnosed as "documented" or "clinically established". All the relevant demographic data including the ethnicity, socioeconomic and cultural background, examination findings, electrophysiological, and other investigations were retrieved from the medical records., Results: The mean age at onset was 12.69 ± 3.13 years. Majority of the children were from urban regions (56.41%) and belonging to low socioeconomic status (46.15%). Thirty (76.92%) were found to have a precipitating factor. Myoclonus was the most common phenomenology observed in these patients (30.76%), followed by tremor (20.51%), dystonia (17.94%), and gait abnormality (7.69%). Chorea (5.12%) and tics (2.56%) were uncommon. Tremor (37.5%) and dystonia (18.75%) were more common in girls, whereas myoclonus (39.13%) was more common in boys., Conclusions: The symptoms of FMD have great impact on the mental health, social, and academic functioning of children. It is important to identify the precipitating factors and associated psychiatric comorbidities in these children as prompt alleviation of these factors by engaging parents and the child psychiatrist will yield better outcomes.
- Published
- 2021
- Full Text
- View/download PDF
194. Anteroposterior Stability: A Determinant of Gait Dysfunction and Falls in Spinocerebellar Ataxia.
- Author
-
Ganapathy VS, James TT, Philip M, Kamble N, Bhattacharya A, Dhargave P, and Pal PK
- Abstract
Background: Establishing an association between gait variability and direction specific balance indices may help in identifying the risk of falls in patients with spinocerebellar ataxia (SCA) which may help in developing an appropriate intervention. This study is intended to identify the association between balance and gait parameters especially gait variability in these patients., Methods: Patients with genetically confirmed SCA ( n = 24) as well as controls ( n = 24) who met the study criteria were recruited. Gait was assessed using the GAITRite system and balance was assessed using dynamic posturography (Biodex) to record direction-specific dynamic balance indices. Disease severity was assessed using international cooperative ataxia rating scale (ICARS)., Results: The mean age of the SCA group (38.83 ± 13.03 years) and the control group (36.38 ± 9.09 years) were comparable. The age of onset of illness was 32 ± 10.62 years and duration of 5.67 ± 3.62 years. The mean ICARS was 45.10 ± 16.75. There was a significant difference in the overall balance index (OBI), anterior-posterior index (API), medial/lateral index (MLI) between SCA patients (4.56 ± 2.09, 3.49 ± 1.88, 2.94 ± 1.32) and the controls (2.72 ± 1.25, 2.08 ± 0.85, 1.85 ± 0.97). However, correlation was observed only between gait stability and balance parameters in API direction., Conclusions: There was an increased anteroposterior oriented balance deficit in patients with SCA, which was significantly correlating with the gait parameters. The balance training intervention may focus on improving anteroposterior direction to prevent falls and improving walking efficiency., Competing Interests: There are no conflicts of interest., (Copyright: © 2006 - 2021 Annals of Indian Academy of Neurology.)
- Published
- 2021
- Full Text
- View/download PDF
195. Spinocerebellar Ataxia Type 12 with an Atypical Ethnicity: A Report of 2 Families.
- Author
-
Holla VV, Prasad S, Kamble N, and Pal PK
- Abstract
Competing Interests: There are no conflicts of interest.
- Published
- 2021
- Full Text
- View/download PDF
196. Stereotypy with Parkinsonism as a Rare Sequelae of Dengue Encephalitis: A Case Report and Literature Review.
- Author
-
Ganaraja VH, Kamble N, Netravathi M, Holla VV, Koti N, and Pal PK
- Subjects
- Adult, Humans, Male, Dengue complications, Dystonia, Encephalitis, Movement Disorders, Parkinsonian Disorders complications, Parkinsonian Disorders diagnostic imaging
- Abstract
Background: Parkinsonism following viral encephalitis is well reported. However, in addition, to parkinsonism other movement disorders such as dystonia, chorea, myoclonus may also be observed in these patients. Stereotypy is a very rare manifestation following viral encephalitis., Case Report: Here we report a rare case of a 25-year-old young man who developed stereotypy and parkinsonism following dengue virus encephalitis. The stereotypy was in the form of snapping of fingers of left-hand which was repetitive, purposeless, non-goal directed, present for most of the day and partially suppressible., Discussion: This report expands the spectrum of movement disorders seen in dengue infection., Competing Interests: The authors have no competing interests to declare., (Copyright: © 2021 The Author(s).)
- Published
- 2021
- Full Text
- View/download PDF
197. The Spectrum of Movement Disorders in Cases with Osmotic Demyelination Syndrome.
- Author
-
Sindhu DM, Holla VV, Prasad S, Kamble N, Netravathi M, Yadav R, and Pal PK
- Abstract
Background: Osmotic demyelination syndrome (ODS) can be a central pontine myelinolysis (CPM) and extrapontine myelinolysis (EPM) based on the regions involved even though they share the same disease process, aetiopathogenesis and time course., Objectives: Present study aims to characterize the clinical, radiological features and the outcome of patients with ODS with movement disorders as the forthcoming manifestation., Methods: Chart review of patients with ODS with movement disorders. Demographic, clinical and radiological details of the patients were reviewed., Results: Eleven patients (six females; mean age: 48.3 ± 17.6 years) were included in the study. Parkinsonism alone and parkinsonism with dystonia was noted in four patients each (36.4%) while dystonia alone was noted in the other 3 (27.3%). Five patients (45.5%) had postural tremors. While 5 patients had dystonia early in the course of illness (3-7 days), it was delayed (6-9 months) in the other 2. A triphasic course was noted in two patients. The first phase of hyponatremia induced neurological impairment was followed by a second phase of worsening due to the immediate effect of ODS and a third delayed phase of worsening due to delayed effect of ODS. MRI showed both EPM and CPM in eight patients, EPM alone in two patients and CPM alone in 1 patient. Nine patients had a good outcome with mRS < 3., Conclusion: Parkinsonism and dystonia are important manifestations of ODS. Triphasic course with a delayed phase of worsening of movement disorders is probably due to the maladaptive neuronal repair. The concept of triphasic ODS is first being described in our series., Competing Interests: No specific funding was received for this work and there are no conflicts of interest relevant to this work., (© 2021 International Parkinson and Movement Disorder Society.)
- Published
- 2021
- Full Text
- View/download PDF
198. Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum.
- Author
-
Holla VV, Surisetti BK, Prasad S, and Pal PK
- Subjects
- Adult, Consanguinity, Dystonic Disorders pathology, Dystonic Disorders physiopathology, Female, Humans, Intellectual Disability pathology, Intellectual Disability physiopathology, Muscle Spasticity pathology, Muscle Spasticity physiopathology, Optic Atrophy pathology, Optic Atrophy physiopathology, Pedigree, Phenotype, Spinocerebellar Ataxias pathology, Spinocerebellar Ataxias physiopathology, Young Adult, Cytoskeletal Proteins genetics, Dystonic Disorders genetics, Intellectual Disability genetics, Muscle Spasticity genetics, Nerve Tissue Proteins genetics, Optic Atrophy genetics, Spinocerebellar Ataxias genetics
- Abstract
Synaptic nuclear envelope protein-1 (SYNE1) related cerebellar ataxia also called ARCA1 or SCAR8, manifests as a relatively pure cerebellar ataxia or with additional neurological involvement. Dystonia is rarely seen in SYNE1 ataxia and to the best of our knowledge, there are only three reports of dystonia in patients with SYNE1 ataxia. This report describes a 22-year-old woman with chronic progressive spastic-ataxia of 3-year duration with additional focal dystonia of the right upper limb. Patient had cerebellar atrophy on MRI brain and a novel pathogenic homozygous variant in exon 74 of the SYNE1 gene (p.Gln4047Ter)., (Copyright © 2021 Elsevier Ltd. All rights reserved.)
- Published
- 2021
- Full Text
- View/download PDF
199. Morphometric mapping of the macrostructural abnormalities of midsagittal corpus callosum in Wilson's disease.
- Author
-
Stezin A, Reddam VR, Hegde S, Yadav R, Saini J, and Pal PK
- Abstract
Background and Purpose: The corpus callosum (CC) consists of topographically arranged white matter (WM) fibers. Previous studies have indicated the CC to be discretely involved in WD. In this study, we strived to characterize the macrostructural properties of the CC using midsagittal cross-sectional area and thickness profile measurements., Materials and Methods: This study was performed using archived magnetic resonance imaging (MRI) scans of 14 patients with WD and 14 age- and gender-matched healthy controls. Using an automated software pipeline for morphometric profiling, the midsagittal CC was segmented into five sub-regions (CC
1-5 ) according to the Hofer-Frahm scheme. The mean thickness and area of different CC segments and their clinical and cognitive correlates were identified., Results: The mean area was significantly different only in CC2 segment (94.2 ± 25.5 vs. 118.6 ± 19.7 mm2 , corrected P < 0.05). The mean thickness was significantly different in CC1 (5.06 ± 1.15 vs. 6.93 ± 0.89 mm, corrected P < 0.05), CC2 (3.73 ± 0.96 vs. 4.87 ± 1.01 mm, corrected P < 0.05), and CC3 segments (3.42 ± 0.84 vs. 3.94 ± 0.72 mm, corrected P < 0.05). The age at onset of neurological symptoms and MMSE score was significantly correlated with the morphometric changes of CC1 and CC2 segments., Conclusion: Morphological changes of the CC are discrete in WD. Morphometric loss of CC was associated with an earlier onset of neurological symptoms and cognitive dysfunction in WD., Competing Interests: Conflicts of interest There are no conflicts of interest.- Published
- 2021
- Full Text
- View/download PDF
200. Patient Knowledge, Attitude and Perceptions towards Botulinum Toxin Treatment for Movement Disorders in India.
- Author
-
Mol TN, Kamble N, Holla VV, Mahale R, Pal PK, and Yadav R
- Abstract
Objective: There is limited literature on the knowledge, attitude, and perceptions (KAP) of botulinum toxin (BoNT) treatment among patients and caregivers. The objective of this study was to assess the KAP in patients undergoing BoNT treatment for movement disorders., Methods: One hundred patients with movement disorders from National Institute of Mental Health and Neurosciences Hospital in Bengaluru, South India, were recruited. The patients underwent demographic, clinical, and Patient Knowledge Questionnaire on Botulinum Toxin Use in Movement Disorders (PKQ-BMD)-based evaluations., Results: The mean age of patients at the time of presentation was 47.97 ± 14.19 years (range, 12-79). Of all the patients, 26 (28%) patients were anxious, and 86% of these patients were reassured after appropriate counseling. There were 83 (89%) patients who found BoNT to be a costlier option. Education and previous Internet searches influenced positive performance in the "knowledge" domain and overall PKQ-BMD scores. The "number of injections" was also positively correlated with KAP performance., Conclusion: This study showed that knowledge and perceptions about BoNT treatment need to be further improved. Wider availability of the Internet has provided a positive impact on patients' and carers' KAP. Internet-based information, higher educational qualifications of the patients, and a higher number of BoNT injection sessions are the most important predictors of satisfactory KAP related to BoNT injection treatment in patients with movement disorders.
- Published
- 2021
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.