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1.
Mov Disord ; 39(2): 339-349, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38014556

RESUMO

BACKGROUND: Recent studies have advanced our understanding of the genetic drivers of Parkinson's disease (PD). Rare variants in more than 20 genes are considered causal for PD, and the latest PD genome-wide association study (GWAS) identified 90 independent risk loci. However, there remains a gap in our understanding of PD genetics outside of the European populations in which the vast majority of these studies were focused. OBJECTIVE: The aim was to identify genetic risk factors for PD in a South Asian population. METHODS: A total of 674 PD subjects predominantly with age of onset (AoO) ≤50 years (encompassing juvenile, young, or early-onset PD) were recruited from 10 specialty movement disorder centers across India over a 2-year period; 1376 control subjects were selected from the reference population GenomeAsia, Phase 2. We performed various case-only and case-control genetic analyses for PD diagnosis and AoO. RESULTS: A genome-wide significant signal for PD diagnosis was identified in the SNCA region, strongly colocalizing with SNCA region signal from European PD GWAS. PD cases with pathogenic mutations in PD genes exhibited, on average, lower PD polygenic risk scores than PD cases lacking any PD gene mutations. Gene burden studies of rare, predicted deleterious variants identified BSN, encoding the presynaptic protein Bassoon that has been previously associated with neurodegenerative disease. CONCLUSIONS: This study constitutes the largest genetic investigation of PD in a South Asian population to date. Future work should seek to expand sample numbers in this population to enable improved statistical power to detect PD genes in this understudied group. © 2023 Denali Therapeutics and The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Assuntos
Doenças Neurodegenerativas , Doença de Parkinson , Humanos , Pessoa de Meia-Idade , Doença de Parkinson/epidemiologia , Doença de Parkinson/genética , Doença de Parkinson/diagnóstico , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla , Mutação
2.
Can J Neurol Sci ; 50(1): 44-48, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-34895381

RESUMO

INTRODUCTION: Psychosis is one of the incapacitating nonmotor symptoms of Parkinson's disease (PD). Although several risk factors that include older age, rapid eye movement sleep behavior disorder, depression, and cognitive dysfunction have been identified, the exact neural correlates remain elusive. As cognitive impairment has a close association with psychosis in PD, it is useful to know the spectrum of cognitive impairment in PD patients with psychosis (PD-P). METHODS: This cross-sectional study compared various cognitive parameters of PD-P (visual/minor hallucinations) and PD patients with no psychosis (PD-NP). A neuropsychological battery encapsulating several cognitive domains (executive, visuospatial, learning, and memory) was used for the cognitive assessment of 37 PD-P and 51 PD-NP patients who were matched for age, gender, education, and disease duration. RESULTS: The two groups were comparable in terms of disease severity and stage. Although the groups had a comparable mean score on Montreal cognitive assessment, the PD-P group performed poorly in tests focused on executive function (color trail test, forward digit span), verbal learning and memory (Rey auditory and verbal learning test), and visuospatial functions (complex figure test, corsi block tapping test). Those with complex visual hallucinations performed poorly in the color trial test (part A) compared to those with minor hallucinations. CONCLUSION: Psychosis is associated with a multidomain cognitive dysfunction in PD. All PD patients should undergo detailed cognitive assessment as cognitive dysfunction may be a marker of psychosis in the future. Additional longitudinal studies are warranted to obtain detailed insights into this issue.


Assuntos
Disfunção Cognitiva , Doença de Parkinson , Humanos , Cognição , Estudos Transversais , Alucinações/complicações , Testes Neuropsicológicos , Doença de Parkinson/complicações
3.
Can J Neurol Sci ; 49(1): 29-37, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-33685534

RESUMO

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.


Assuntos
Distonia , Distúrbios Distônicos , Música , Distúrbios Distônicos/diagnóstico , Músculos Faciais , Mãos , Humanos
4.
Can J Neurol Sci ; 49(1): 93-101, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-33685545

RESUMO

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.


Assuntos
Discinesias , Distonia , Doença de Parkinson , Transtornos Parkinsonianos , Idade de Início , Encéfalo , Humanos , Doença de Parkinson/diagnóstico , Doença de Parkinson/epidemiologia
5.
Hum Brain Mapp ; 41(5): 1323-1333, 2020 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-31778276

RESUMO

Microstructural changes associated with degeneration of dopaminergic neurons of the substantia nigra pars compacta (SNc) in Parkinson's disease (PD) have been studied using Diffusion Tensor Imaging (DTI). However, these studies show inconsistent results, mainly due to methodological variations in delineation of SNc. To mitigate this, our work aims to construct a probabilistic atlas of SNc based on a 3D Neuromelanin Sensitive MRI (NMS-MRI) sequence and demonstrate its applicability to investigate microstructural changes on a large dataset of PD. Using manual segmentation and deformable registration we created a novel SNc atlas in the MNI space using NMS-MRI sequences of 27 healthy controls (HC). We first quantitatively evaluated this atlas and then employed it to investigate the micro-structural abnormalities in SNc using diffusion MRI from 133 patients with PD and 99 HCs. Our results demonstrated significant increase in diffusivity with no changes in anisotropy. In addition, we also observed an asymmetry of the diffusion metrics with a higher diffusivity and lower anisotropy in the left SNc than the right. Finally, a multivariate classifier based on SNc diffusion features could delineate patients with PD with an average accuracy of 71.7%. Overall, from this work we establish a normative baseline for the SNc region of interest using NMS-MRI while the application on PD data emphasizes on the contribution of diffusivity measures rather than anisotropy of white matter in PD.


Assuntos
Imagem de Tensor de Difusão/métodos , Melaninas/metabolismo , Doença de Parkinson/diagnóstico por imagem , Doença de Parkinson/metabolismo , Substância Negra/diagnóstico por imagem , Substância Negra/metabolismo , Idoso , Anisotropia , Antiparkinsonianos/uso terapêutico , Atlas como Assunto , Feminino , Humanos , Levodopa/uso terapêutico , Masculino , Testes de Estado Mental e Demência , Pessoa de Meia-Idade , Substância Branca/diagnóstico por imagem
6.
BMC Neurol ; 20(1): 87, 2020 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-32164608

RESUMO

BACKGROUND: Huntington's disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent 'incurability' often deters symptomatic and rehabilitative care, resulting in poor quality of life and sub-optimal outcomes. There are no studies assessing disease burden and outcomes from India. METHODS: We attempted to evaluate individuals diagnosed to have HD at our tertiary-care center between 2013 and 2016 for clinical symptoms, functionality, mortality, follow up status through a structured interview, clinical data from medical records and UHDRS-TFC scoring. RESULTS: Of the 144 patients, 25% were untraceable, and another 17 (11.8%) had already died. Mean age at death and duration of illness at the time of death, were 53 years and 7 years respectively, perhaps due to suicides and other comorbidities at an early age. The patients who could be contacted (n = 81) were assessed for morbidity and total functional capacity (TFC). Mean CAG repeat length and TFC score were 44.2 and 7.5 respectively. Most individuals (66%) were in TFC stage I and II and could perhaps benefit from several interventions. The TFC score correlated inversely with duration of illness (p < 0.0001). The majority were being taken care of at home, irrespective of the physical and mental disability. There was a high prevalence of psychiatric morbidity (91%) including suicidal tendency (22%). Three of the 17 who died had committed suicide, and several other families reported suicidal history in other family members. Only about half the patients (57%) maintained a regular clinical follow-up. CONCLUSIONS: This study demonstrates the poor follow-up rates, significant suicidality and other psychiatric symptoms, sub-optimal survival durations and functional outcomes highlighting the need for holistic care for the majority who appear to be amenable to interventions.


Assuntos
Doença de Huntington/psicologia , Qualidade de Vida , Suicídio/estatística & dados numéricos , Adolescente , Adulto , Comorbidade , Feminino , Humanos , Doença de Huntington/epidemiologia , Índia , Masculino , Pessoa de Meia-Idade , Prevalência , Ideação Suicida , Adulto Jovem
7.
Neurol India ; 66(Supplement): S135-S137, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29503336

RESUMO

Improvement in motor symptoms with levodopa is one of the hallmark features of Parkinson's disease (PD). The response to levodopa may reduce during the course of the illness. Few studies have also reported reduced response to levodopa in patients with PD several years after deep brain stimulation (DBS) of the subthalamic nucleus (STN) on both the sides. In this study, we report an extreme unresponsiveness to levodopa in the presence of a good response to STN stimulation in a patient 5 years after the DBS proceudre had been carried out. The implications of this phenomenon are also discussed.


Assuntos
Antiparkinsonianos/uso terapêutico , Estimulação Encefálica Profunda , Levodopa/uso terapêutico , Doença de Parkinson/terapia , Núcleo Subtalâmico/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/tratamento farmacológico , Doença de Parkinson/fisiopatologia , Falha de Tratamento , Resultado do Tratamento
9.
Neurol India ; 65(6): 1322-1329, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29133709

RESUMO

INTRODUCTION: Dystonia is one of the most prevalent forms of movement disorders and is characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonia causes significant morbidity with an adverse impact on the quality of life. When dystonia is medically refractory, causing severe pain and impairment in activities of daily living, deep brain stimulation (DBS) of the globus pallidus interna (GPi) is a potential option to reduce disability. MATERIALS AND METHODS: This is a chart review of patients who underwent DBS for dystonia (from 2009 to 2015) at our tertiary referral centre. A total of ten patients (7 males, 3 females) underwent DBS for non-parkinsonian conditions. The patients were selected after failure of adequate medical management. All the patients had a severe disability with normal cognitive (Mini-Mental State Examination) and psychiatric profile. They also had to have a suitable GPi for DBS based on magnetic resonance imaging. RESULTS: The mean baseline Burke-Fahn-Marsden dystonia movement score of the 10 patients selected for surgery was 60.3 ± 27.3 (ranging from 19 to 104). On repeated-measures analysis of variance, there was significant difference in the different time points (pre-DBS, post-DBS at 3 months, 6 months, and 1 year) F (3, 5) = 7.68, P = 0.026. The data showed that there was a maximum improvement after 1 year of stimulation (pre-DBS vs. 3 months 12.9 ± 1.9 vs 8.8 ± 2.1, P = 0.01; pre-DBS vs. 6 months 12.9 ± 1.9 vs 7.4 ± 1.6, P = 0.04; pre-DBS vs. 1 year, 12.9 ± 1.9 vs. 7 ± 2.4. CONCLUSION: In medically refractory primary or secondary dystonia patients, bilateral GPi DBS can be considered as an option. Patients with disabling symptoms that significantly deteriorate activities of daily life may consider DBS before these symptoms become fixed.


Assuntos
Estimulação Encefálica Profunda , Globo Pálido/cirurgia , Transtornos dos Movimentos/cirurgia , Centros de Atenção Terciária , Atividades Cotidianas , Adolescente , Adulto , Criança , Estimulação Encefálica Profunda/métodos , Feminino , Globo Pálido/fisiopatologia , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Movimento/fisiologia , Qualidade de Vida/psicologia , Resultado do Tratamento , Adulto Jovem
10.
Ann Indian Acad Neurol ; 27(1): 40-45, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38495245

RESUMO

Background: Progressive supranuclear palsy (PSP) is the most common primary tauopathy. The definite diagnosis of PSP is established by histopathologic changes in the brain. There are no reliable blood-based biomarkers to aid the diagnosis of this fatal disease at an early stage. Also, the precise etiopathology of PSP and its variants is inadequately understood. Objective: Blood-based molecules such as neurofilament light chain (NfL) and insulin-like growth factor-1 (IGF-1) are shown as important markers of neurodegenerative and aging processes, respectively. These two biomarkers have not been analyzed simultaneously in PSP patients. Methods: To address this knowledge gap, 40 PSP patients and equal number of healthy individuals were recruited and serum levels of NfL and IGF-1 were assayed in all the study participants by enzyme-linked immunosorbent assay (ELISA). Motor and nonmotor symptoms were evaluated in PSP patients using various scales/questionnaires. Cardiac autonomic function tests were performed in a subset of patients (n = 27). Results: A significantly high serum level of NfL (P < 0.01) and a reduced level of IGF-1 (P = 0.02) were observed in PSP patients compared to healthy controls. Besides, a negative correlation (r = -0.54, P < 0.01) between NfL and IGF-1 levels was observed in PSP patients. Conclusion: The finding of this study reinforces the important role of blood NfL level as a potential biomarker of PSP. Further, the current study provides novel insights into the reciprocal correlation between NfL and IGF-1 in PSP patients. Combined analysis of blood levels of these two functionally relevant markers might be useful in the prediction and diagnosis of PSP.

11.
Ann Indian Acad Neurol ; 27(2): 152-157, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38751907

RESUMO

Background and Aim: Friedreich's ataxia (FRDA) is a common cause of autosomal recessive cerebellar ataxia. The phenotype is dependent on the repeat size and duration of the disease. We aimed to study the clinical, electrophysiologic, and radiologic profiles in a large Indian cohort of genetically proven FRDA patients. Subjects and Methods: A retrospective cross-sectional, descriptive analysis of genetically proven FRDA patients was performed. A detailed review of all the hospital case records was done to analyze the clinical, radiologic, and electrophysiologic details. Results: A total of 100 FRDA patients were selected for the analysis. Eighty-six patients had an age at onset between 5 and 25 years. Eight patients (8%) were classified as late-onset FRDA and six patients (6%) as early-onset FRDA. The median age at presentation was 19 years. The median age at onset was 14 years, and the median duration of illness was 4 years. All patients had gait ataxia as the initial symptom. Gait ataxia, loss of proprioception, and areflexia were seen in all patients. Dysarthria, nystagmus, amyotrophy, spasticity, extensor plantars, pes cavus, and scoliosis occurred in one-third of patients. Cardiomyopathy (18%) and diabetes (5%) were less common. Sensory polyneuropathy (87.5%) was the most common nerve conduction abnormality. Cortical somatosensory evoked responses were absent in all 43 tested patients (100%). Brainstem auditory evoked response test was done in 24 patients and it showed absent reactions in six patients (25%). Visual evoked potential was tested in 24 patients and it showed absent P100 responses in five patients (21%). Cerebellar and cord atrophy was seen on magnetic resonance imaging in 50% of patients. Conclusion: Most FRDA patients (86%) had an age at onset of less than 25 years, with typical symptoms of gait ataxia, areflexia, and loss of proprioception found in all patients. Dysarthria, nystagmus, amyotrophy, spasticity, extensor plantars, pes cavus, scoliosis, cardiomyopathy, and diabetes were not seen in all patients. Cerebellar atrophy can occur in FRDA patients. Knowledge regarding the clinical, radiologic, and electrophysiologic profile of FRDA will aid in proper phenotypic characterization.

12.
Mov Disord Clin Pract ; 11(7): 770-785, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38748762

RESUMO

BACKGROUND: Subacute sclerosing panencephalitis (SSPE) is a complication of measles, occurring after a latency of 4-10 years. It continues to occur in developing countries although resurgence is being reported from developed countries. Characteristic features include progressive neuropsychiatric issues, myoclonus, seizures, movement disorders and visual impairment. Electroencephalography (EEG) typically shows periodic generalized discharges, and elevated CSF anti-measles antibodies are diagnostic. Movement disorders are being increasingly recognized as part of the clinical spectrum, and range from hyperkinetic (chorea, dystonia, tremor, tics) to hypokinetic (parkinsonism) disorders and ataxia. OBJECTIVES: This article aims to comprehensively review the spectrum of movement disorders associated with SSPE. METHODS: A literature search was conducted in PubMed and EMBASE databases in December 2023 and articles were identified for review. RESULTS: Movement disorders reported in SSPE included hyperkinetic (chorea, dystonia, tremor and tics), hypokinetic (parkinsonism), ataxia and extraocular movement disorders. Myoclonus, a core clinical feature, was the most frequent "abnormal movement." Movement disorders were observed in all clinical stages, and could also be a presenting feature, even sans myoclonus. Hyperkinetic movement disorders were more common than hypokinetic movement disorders. An evolution of movement disorders was observed, with ataxia, chorea and dystonia occurring earlier, and parkinsonism later in the disease. Neuroradiological correlates of movement disorders remained unclear. CONCLUSION: A wide spectrum of movement disorders was observed throughout the clinical stages of SSPE. Most data were derived from case reports and small case series. Multicentric longitudinal studies are required to better delineate the spectrum and evolution of movement disorders in SSPE.


Assuntos
Transtornos dos Movimentos , Panencefalite Esclerosante Subaguda , Humanos , Coreia/etiologia , Coreia/fisiopatologia , Coreia/diagnóstico , Distonia/etiologia , Distonia/fisiopatologia , Eletroencefalografia , Transtornos dos Movimentos/etiologia , Transtornos dos Movimentos/fisiopatologia , Transtornos dos Movimentos/diagnóstico , Mioclonia/etiologia , Mioclonia/fisiopatologia , Panencefalite Esclerosante Subaguda/complicações , Panencefalite Esclerosante Subaguda/diagnóstico , Panencefalite Esclerosante Subaguda/fisiopatologia , Tremor/etiologia
13.
J Clin Neurosci ; 108: 37-75, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36586226

RESUMO

BACKGROUND: Recent studies have shown various neurological adverse events associated with COVID-19 vaccine. OBJECTIVE: We aimed to retrospectively review and report the neurological diseases temporally associated with COVID-19 vaccine. METHODS: We performed a retrospective chart review of admitted patients from 1st February 2021 to 30th June 2022. A total of 4672 medical records were reviewed of which 51 cases were identified to have neurological illness temporally associated with COVID-19 vaccination. RESULTS: Out of 51 cases, 48 had probable association with COVID-19 vaccination while three had possible association. Neurological spectrum included CNS demyelination (n = 39, 76.5 %), Guillain-Barré-syndrome (n = 3, 5.9 %), stroke (n = 6, 11.8 %), encephalitis (n = 2, 3.9 %) and myositis (n = 1, 2.0 %). Female gender had a greater predisposition (F:M, 1.13:1). Neurological events were more commonly encountered after the first-dose (n = 37, 72.5%). The mean latency to onset of symptoms was 13.2 ± 10.7 days after the last dose of vaccination. COVIShield (ChAdOx1) was the most commonly administered vaccine (n = 43, 84.3 %). Majority of the cases with demyelination were seronegative (n = 23, 59.0 %) which was followed by anti-Myelin oligodendrocyte-glycoprotein associated demyelination (MOGAD) (n = 11, 28.2 %) and Neuromyelitis optica (NMOSD) (n = 5, 12.8 %). Out of 6 Stroke cases, 2 cases (33.3 %) had thrombocytopenia and coagulopathy. At discharge, 25/51 (49.0 %) of the cases had favourable outcome (mRS 0 to 1). Among six patients of stroke, only one of them had favourable outcome. CONCLUSION: In this series, we describe the wide variety of neurological syndromes temporally associated with COVID-19 vaccination. Further studies with larger sample size and longer duration of follow-up are needed to prove or disprove causality association of these syndromes with COVID-19 vaccination.


Assuntos
COVID-19 , Doenças do Sistema Nervoso , Neuromielite Óptica , Acidente Vascular Cerebral , Humanos , ChAdOx1 nCoV-19 , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Doenças do Sistema Nervoso/etiologia , Estudos Retrospectivos
16.
Handb Clin Neurol ; 184: 135-151, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35034730

RESUMO

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.


Assuntos
Córtex Motor , Doença de Parkinson , Estimulação Transcraniana por Corrente Contínua , Potencial Evocado Motor , Marcha , Humanos , Plasticidade Neuronal , Doença de Parkinson/terapia , Estimulação Magnética Transcraniana
17.
Cureus ; 14(1): e21717, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35242481

RESUMO

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.

18.
Ann Indian Acad Neurol ; 25(3): 367-375, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35936598

RESUMO

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.

19.
Neurol India ; 70(3): 1032-1040, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35864635

RESUMO

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.


Assuntos
Cisticercose , Cistos , Neurocisticercose , Taenia solium , Adulto , Animais , Cisticercose/diagnóstico , Hospitais Universitários , Humanos , Pessoa de Meia-Idade , Neurocisticercose/diagnóstico por imagem , Neurocisticercose/tratamento farmacológico , Convulsões , Adulto Jovem
20.
Ann Indian Acad Neurol ; 25(5): 817-820, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36560983

RESUMO

Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder. In India, an accurate number of PD patients remains uncertain owing to the unawareness of PD symptoms in the geriatric population and the large discrepancy between the number of PD patients and trained neurologists. Constructing additional neurological care centers along with using technology and integrating it into digital healthcare platforms will help reduce this burden. Use of technology in PD diagnosis and monitoring started in 1980s with invasive techniques performed in laboratories. Over the last five decades, PD technology has significantly evolved where now patients can track symptoms using their smartphones or wearable sensors. However, the use of such technology within the Indian population is non-existent primarily due to the cost of digital devices and limited technological capabilities of geriatric patients especially in rural areas. Other reasons include secure data transfers from patients to physicians and the general lack of awareness of wearables devices. Thus, creating a simple, cost-effective and inconspicuous wearable device would yield the highest compliance within the Indian PD patient population. Implementation of such technology will provide neurologists with wider outreach to patients in rural locations, remote monitoring and empirical data to titrate medication.

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