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1.
Artículo en Inglés | MEDLINE | ID: mdl-38835164

RESUMEN

OBJECTIVE: Motor imagery-based brain-computer interface (MI-BCI) is a promising novel mode of stroke rehabilitation. The current study aims to investigate the feasibility of MI-BCI in upper limb rehabilitation of chronic stroke survivors and also to study the early event-related desynchronization after MI-BCI intervention. METHODS: Changes in the characteristics of sensorimotor rhythm modulations in response to a short brain-computer interface (BCI) intervention for upper limb rehabilitation of stroke-disabled hand and normal hand were examined. The participants were trained to modulate their brain rhythms through motor imagery or execution during calibration, and they played a virtual marble game during the feedback session, where the movement of the marble was controlled by their sensorimotor rhythm. RESULTS: Ipsilesional and contralesional activities were observed in the brain during the upper limb rehabilitation using BCI intervention. All the participants were able to successfully control the position of the virtual marble using their sensorimotor rhythm. CONCLUSIONS: The preliminary results support the feasibility of BCI in upper limb rehabilitation and unveil the capability of MI-BCI as a promising medical intervention. This study provides a strong platform for clinicians to build upon new strategies for stroke rehabilitation by integrating MI-BCI with various therapeutic options to induce neural plasticity and recovery.

2.
Ann Indian Acad Neurol ; 27(2): 146-151, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38751906

RESUMEN

Background: Idiopathic intracranial hypertension (IIH) typically manifests with headache, accompanied by papilledema and visual loss, and has a higher prevalence in females. In recent years, ocular sonography, particularly, measurement of optic nerve sheath diameter (ONSD), is being investigated for diagnosis of IIH. Methods: A total of 35 patients over the age of 18 years, fulfilling the modified Dandy's criteria for diagnosis of IIH were included. Patients underwent assessment with magnetic resonance imaging, lumbar puncture, and ocular sonography to measure ONSD and ocular arterial indices. Results: The mean ONSD values (in centimeters) in the right eye of patients with IIH was 0.57 ± 0.13, while it was 0.48 ± 0.03 in controls. In the left eye, the mean ONSD value (cm) was 0.59 ± 0.13 in patients with IIH and 0.48 ± 0.03 in controls. ONSD was significantly higher in cases compared to controls (P < 0.001, Welch test). Pulsatility index of the central retinal artery was significantly higher in cases compared to controls (P < 0.001, Welch test). Resistance index of the ophthalmic artery was statistically significant (P < 0.005, Welch test). Receiver operating characteristic curve analysis revealed a cutoff value of 5.1 mm on the right side and 5 mm on the left side had a sensitivity and specificity of more than 80% for IIH diagnosis. Conclusion: Our study provides insights into the utility of optic nerve sheath measurements and arterial indices in the diagnosis of IIH in a South Indian cohort. Further research is needed to fully understand the longitudinal relationship of these parameters and treatment outcomes in IIH.

3.
Ann Indian Acad Neurol ; 27(1): 34-39, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38495239

RESUMEN

Background: Deep cerebral venous thrombosis (DCVT) can have long-term functional and cognitive sequelae. Although literature exists on cognitive impairment after arterial stroke, cognitive sequelae after cerebral venous thrombosis (CVT) are much less studied. Methods: Clinical records of 29 patients diagnosed with DCVT were reviewed. The Modified Telephonic Interview for Cognitive Status (TICS-M) was adapted and validated in the regional language (Kannada) and applied to 18 patients with DCVT, at a mean follow-up duration of 5.32 years. Screening for depression was done via telephonic Patient Health Questionnaire-9 (PHQ-9)-Kannada version, and functional status was screened by applying the modified Rankin Scale (mRS). Results: DCVT had a mortality rate of 10.34% due to acute complications. mRS scores of 0-1 were achieved at follow-up in all patients who survived. Receiver operating characteristic (ROC) analysis revealed a cutoff of ≤44.5 (maximum score of 49) for the diagnosis of cognitive impairment via TICS-M (Kannada version) in DCVT patients. Evidence of cognitive dysfunction was seen in eight patients (42.10%), and three patients (16.66%) had evidence of depression. Conclusions: Survivors of acute DCVT can potentially have long-term cognitive sequelae. Screening for cognitive dysfunction, depression, and functional status can be effectively done using telephonically applied scales that are adapted to the local language. Neuropsychological evaluation and early cognitive rehabilitation can be initiated for patients in whom deficits are identified on cognitive screening.

5.
Front Neurosci ; 18: 1340528, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38379759

RESUMEN

Aberrant alterations in any of the two dimensions of consciousness, namely awareness and arousal, can lead to the emergence of disorders of consciousness (DOC). The development of DOC may arise from more severe or targeted lesions in the brain, resulting in widespread functional abnormalities. However, when it comes to classifying patients with disorders of consciousness, particularly utilizing resting-state electroencephalogram (EEG) signals through machine learning methods, several challenges surface. The non-stationarity and intricacy of EEG data present obstacles in understanding neuronal activities and achieving precise classification. To address these challenges, this study proposes variational mode decomposition (VMD) of EEG before feature extraction along with machine learning models. By decomposing preprocessed EEG signals into specified modes using VMD, features such as sample entropy, spectral entropy, kurtosis, and skewness are extracted across these modes. The study compares the performance of the features extracted from VMD-based approach with the frequency band-based approach and also the approach with features extracted from raw-EEG. The classification process involves binary classification between unresponsive wakefulness syndrome (UWS) and the minimally conscious state (MCS), as well as multi-class classification (coma vs. UWS vs. MCS). Kruskal-Wallis test was applied to determine the statistical significance of the features and features with a significance of p < 0.05 were chosen for a second round of classification experiments. Results indicate that the VMD-based features outperform the features of other two approaches, with the ensemble bagged tree (EBT) achieving the highest accuracy of 80.5% for multi-class classification (the best in the literature) and 86.7% for binary classification. This approach underscores the potential of integrating advanced signal processing techniques and machine learning in improving the classification of patients with disorders of consciousness, thereby enhancing patient care and facilitating informed treatment decision-making.

6.
Trop Doct ; 54(1): 53-55, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37899738

RESUMEN

Acute toxic leukoencephalopathy and serotonin syndrome are rare neurological complications associated with various drugs and toxins, some of which overlap. However, the co-occurrence of these conditions is poorly documented. We present the case of a 14-year-old boy who suddenly developed altered consciousness and autonomic dysfunction after consuming excessive quantities of cough remedies containing dextromethorphan, chlorphenamine, dichlorobenzyl alcohol, and amylmetacreson. Magnetic resonance imaging of the brain revealed distinct white matter lesions. With supportive care, the patient rapidly improved, and the magnetic resonance imaging abnormalities disappeared. The swift resolution, typical magnetic resonance imaging findings, and a history of exposure to drugs affecting the central nervous system's serotonergic system suggested concurrent acute toxic leukoencephalopathy and serotonin syndrome. The components of cough medications can be hazardous in overdose due to their potential to enhance serotonin toxicity and cause direct or indirect central nervous system white matter damage. Early recognition and appropriate treatment are essential for recovery.


Asunto(s)
Sobredosis de Droga , Leucoencefalopatías , Síndrome de la Serotonina , Masculino , Humanos , Adolescente , Síndrome de la Serotonina/inducido químicamente , Síndrome de la Serotonina/diagnóstico , Síndrome de la Serotonina/patología , Sobredosis de Droga/complicaciones , Sobredosis de Droga/patología , Leucoencefalopatías/diagnóstico , Leucoencefalopatías/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Imagen por Resonancia Magnética , Tos
7.
Neurol India ; 71(5): 916-922, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37929427

RESUMEN

Background: Due to effective treatment of middle ear infections there is a change in etiologies causing lateral sinus thrombosis (LST) and outcome. There is a paucity of literature describing homogenous group of patients with nonseptic LST (NS-LST). Objective: To describe the clinical profile, risk factors, outcome of patients of NS-LST seen at a single center from South India. Methods and Materials: Prospective, observational study of 100 patients of NS-LST patients, diagnosed by magnetic resonance imaging (MRI) seen at the stroke unit. Results: During 2 years, 100 patients of NS-LST (isolated: combined: 27:73) (male: female: 44:56), mean age: 31.45 ± 11.13 years, were seen. Subacute presentation (74%) with headache, seizures, focal deficits, and features of raised intracranial pressure were presenting features. Hyperhomocysteinemia (61%), anemia (57%), postpartum state (41%), OCP use (37%), and low VitB12 (32%) were commonly seen risk factors. Imaging with MRI compared withcomputerized tomography (CT) had better diagnostic sensitivity (100% vs. 67%), detection of parenchymal (81% vs. 67%)/hemorrhagic (79% vs. 74%) lesions, and cortical vein thrombosis (31% vs. 15.46%). Treatment with anticoagulation and supportive therapy resulted in good outcome (mRS (0-2)) at 3 months in 81%.There were four deaths, all during admission (one - isolated, three - combined) and 11 patients underwent decompressive surgery. Patients with low GCS level of sensoriumat admission, hemiparesis, combined LST, cerebellar involvement, and decompressive craniectomy had a poor outcome. Conclusion: This single-center large cohort study of NS-LST patients brings out the clinical features, risk factors (peculiar to developing countries), and the superiority of MRI in the diagnosis. Majority of patients have good outcome, with low mortality with 10% requiring decompressive surgery.


Asunto(s)
Trombosis del Seno Lateral , Trombosis de los Senos Intracraneales , Accidente Cerebrovascular , Humanos , Masculino , Femenino , Adulto Joven , Adulto , Trombosis del Seno Lateral/diagnóstico , Trombosis del Seno Lateral/etiología , Trombosis del Seno Lateral/terapia , Estudios de Cohortes , Estudios Prospectivos , Países en Desarrollo , Tomografía Computarizada por Rayos X , Imagen por Resonancia Magnética , Accidente Cerebrovascular/terapia , Accidente Cerebrovascular/complicaciones , Trombosis de los Senos Intracraneales/complicaciones , Trombosis de los Senos Intracraneales/diagnóstico , Trombosis de los Senos Intracraneales/terapia , Estudios Retrospectivos
8.
Brain Connect ; 13(10): 610-620, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37930734

RESUMEN

Introduction: Unraveling the network pathobiology in neurodegenerative disorders is a popular and promising field in research. We use a relatively newer network measure of assortativity in metabolic connectivity to understand network differences in patients with Alzheimer's Disease (AD), compared with those with mild cognitive impairment (MCI). Methods: Eighty-three demographically matched patients with dementia (56 AD and 27 MCI) who underwent positron emission tomography-magnetic resonance imaging (PET-MRI) study were recruited for this exploratory study. Global and nodal network measures obtained using the BRain Analysis using graPH theory toolbox were used to derive group-level differences (corrected p < 0.05). The methods were validated in age, and gender-matched 23 cognitively normal, 25 MCI, and 53 AD patients from the publicly available Alzheimer's Disease Neuroimaging Initiative (ADNI) data. Regions that revealed significant differences were correlated with the Addenbrooke's Cognitive Examination-III (ACE-III) scores. Results: Patients with AD revealed significantly increased global assortativity compared with the MCI group. In addition, they also revealed increased modularity and decreased participation coefficient. These findings were validated in the ADNI data. We also found that the regional standard uptake values of the right superior parietal and left superior temporal lobes were proportional to the ACE-III memory subdomain scores. Conclusion: Global errors associated with network assortativity are found in patients with AD, making the networks more regular and less resilient. Since the regional measures of these network errors were proportional to memory deficits, these measures could be useful in understanding the network pathobiology in AD.


Asunto(s)
Enfermedad de Alzheimer , Disfunción Cognitiva , Humanos , Enfermedad de Alzheimer/metabolismo , Encéfalo/patología , Imagen por Resonancia Magnética/métodos , Disfunción Cognitiva/patología , Neuroimagen , Tomografía de Emisión de Positrones/métodos
9.
Ann Indian Acad Neurol ; 26(5): 778-781, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38022435

RESUMEN

Diagnosis and treatment of cerebral venous sinus thrombosis (CVT) associated with subdural hematoma (SDH) is challenging with an increased risk of rebleeding on using anticoagulation. There are no guidelines at present due to its rare presentation. In this report we describe three patients who presented with non-traumatic SDH and CVT over the last 3 years. Clinical assessment, investigations including neuroimaging, and management were reviewed both at time of admission and follow-up. These patients presented with varied CVT syndromes -isolated raised intracranial pressure (ICP), focal and diffuse encephalopathy. Neuroimaging helped in diagnosing CVT and SDH. Cases 1 and 3 had SDH alone, while case 2 had SDH along with intraparenchymal hemorrhage. Management of these patients was tailored individually as per mechanism of CVT. Case 1 was clinically stable, however, she had rebleeding after starting anticoagulation, requiring its discontinuation. Cases 2 and 3 underwent immediate neurosurgical intervention in view of deteriorated sensorium. Although CVT manifesting as SDH is rare, clinicians should have a high index of suspicion to accurately diagnose and manage these challenging cases. The decision regarding use of anticoagulation and apt time for neurosurgical intervention needs to be individualized depending on patients condition and response to treatment.

10.
Ann Indian Acad Neurol ; 26(5): 733-741, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38022466

RESUMEN

Background and Purpose: Cerebral venous thrombosis (CVT) presenting as vision loss is uncommon. Raised intracranial tension in CVT is proposed as one of the mechanisms (13.2%). There are still unknown underlying mechanisms to explain vision loss in CVT. The safety and outcome of the surgery (optic nerve sheath fenestration [ONSF] or theco-peritoneal shunt [TPS]) to reduce intracranial hypertension and prevent vision loss has not been studied. Methods: A retrospective case record review of CVT patients with impending vision loss who underwent ONSF/TPS from 2007 to 2019 was performed from the stroke registry. All patients had formal neuro-ophthalmological evaluation and documentation of visual acuity, supplemented by visual field assessments by perimetry in a subset of patients. Safety and outcomes were assessed based on vision improvement and adverse effects after the surgery. Results: Among approximately 1400 patients with CVT admitted in the stroke ward over 12 years, surgery for rescuing vision was done in 18. Among these, the males were 6, and the females were 12. The mean age of presentation was 24 (range 18-52 years). All of them had headaches and progressive blurring of vision with papilledema. The number of patients who underwent TPS was 13, ONSF was 1, and both were 4. In the TPS group (26 eyes), vision improved in 15 eyes (57.7%), remained status-quo in 8 eyes (30.7%), and worsened in 3 eyes (11.5%). Four patients underwent both surgeries; three eyes improved, two remained status quo, and three worsened. One patient underwent ONSF, and his vision remained status quo (no perception of light). Three patients (17.6%) of the TPS group had minor complications (low-pressure headache, subdural hygroma), and five (29.4%) had major complications like subdural hemorrhage, abdominal wound infection, and meningitis. Conclusion and Implications: In patients with CVT, adequate vision monitoring is mandatory. Shunt surgeries (especially TPS) may help in stabilizing/improving vision in CVT patients with impending vision loss, despite adequate anti-edema measures (53.8% improved). Early diagnosis and precise decisions in referring for surgery are crucial.

11.
J Clin Neurosci ; 117: 54-60, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37769407

RESUMEN

PURPOSE: Mastoid air cell abnormalities in the form of hyperintense T2 fluid signal have been reported in cases of acute Cerebral Venous Thrombosis (CVT) without otologic infection and have been hypothesized to be a result of venous congestion rather than infectious mastoiditis. The aim of this study was to investigate a link between the spectrum of mastoid abnormalities and clot burden in patients with acute CVT. METHODS: A retrospective study of adult patients admitted to the National Institute of Mental Health and Neurosciences between 2016 and 2023 who were diagnosed with acute CVT and had no clinical evidence of active or recent ear infections was conducted. Pre- and post-contrast MR Images were analyzed to identify the dural sinuses and/or cerebral veins involved and the presence of fluid signal in the mastoid. Fluid signal in the mastoid was graded from 0 to 3 as described by Shah et al- no fluid signal (grade 0), thin curvilinear hyperintensities (grade 1), thick crescenteric hyperintensities (grade 2), and complete hyperintensity (grade 3). Clot Burden Score (CBS) was calculated by assigning one point for each sinus involved, one point for extension of thrombus into the intracranial Internal Jugular Vein (IJV), one point for thrombosis of cortical veins and one point for thrombosis of deep cerebral veins. RESULTS: A total of 89 patients with acute CVT were included in the final analysis. Median time from presentation to MRI was 2 days (range 0-13). 51 patients (57.3%) had fluid signal in the mastoid air cells on T2-weighted images, of whom 33 showed mucosal contrast enhancement. Higher grade of fluid signal in the mastoid was present ipsilateral to the side of venous thrombosis in 59 out of 60 patients with posterior fossa CVT. CBS was significantly different between patients with different grades of fluid signal (p = 0.002). Grade 2-3 fluid signal was associated with higher clot burden (CBS > 3) in both the entire study population (n = 89) - OR = 8.281, 95 %CI: 2.758-24.866 (p < 0.001) and among patients with posterior fossa CVT - OR = 4.375, 95 %CI: 1.320-14.504 (p = 0.016). Among patients with posterior fossa CVT, grade 2-3 fluid signal was associated with left sided transverse and/or sigmoid sinus thrombosis - OR = 5.600, 95 %CI: 1.413-22.188 (p = 0.014), and extension of thrombosis into the IJV - OR = 4.606, 95 %CI: 1.162-18.262 (p = 0.030). CONCLUSION: T2 fluid signal in the mastoid is associated with venous congestion in adults with acute CVT without evidence of otologic infection. Moderate-to-severe T2 fluid signal in the mastoid air cells is associated with increased clot burden.


Asunto(s)
Hiperemia , Trombosis Intracraneal , Trombosis , Trombosis de la Vena , Estados Unidos , Adulto , Humanos , Apófisis Mastoides/diagnóstico por imagen , Estudios Retrospectivos , Trombosis Intracraneal/complicaciones , Trombosis Intracraneal/diagnóstico por imagen , Trombosis de la Vena/complicaciones , Trombosis de la Vena/diagnóstico por imagen
12.
BMC Neurol ; 23(1): 296, 2023 Aug 09.
Artículo en Inglés | MEDLINE | ID: mdl-37558991

RESUMEN

OBJECTIVE: To observe the effect of overground gait training with 'Mobility Assisted Robotic System-MARS' on gait parameters in patients with stroke. PATIENTS & METHODS: This prospective pre-post study was conducted in a tertiary teaching research hospital with 29 adult stroke patients, with age up to 65 years. Patients fulfilling the inclusion criteria were divided in 2 groups based on the duration of stroke (≤ 6 months-sub-acute & > 6 months-chronic stroke) and provided overground gait training with MARS robot for 12 sessions (1 h/session) over a period of 2-3 weeks. Primary outcome measures were; 10-Meter walk test-10MWT, 6-min' walk test-6MWT and Timed up & Go-TUG tests. Secondary outcome measures were Functional Ambulation Category-FAC, Modified Rankin Scale-MRS and Scandinavian Stroke Scale-SSS. RESULTS: No adverse events were reported. Twenty-five patients who were able to perform 10-MWT at the beginning of study were included in the final analysis with 12 in sub-acute and 13 in chronic stroke group. All primary and secondary outcome measures showed significant improvement in gait parameters at the end of the training (p < 0.05) barring 10-Meter walk test in sub-acute stroke group (p = 0.255). Chronic stroke group showed significant minimum clinically important difference-MCID difference in endurance (6MWT) at the end of the training and both groups showed better 'minimal detectable change-MDC' in balance (TUG) at the end of the training. CONCLUSIONS: Patients in both the groups showed significant improvement in walking speed, endurance, balance and independence at the end of the training with overground gait training with MARS Robot. CLINICAL TRIAL REGISTRY: National Clinical Trial Registry of India (CTRI/2021/08/035695,16/08/2021).


Asunto(s)
Trastornos Neurológicos de la Marcha , Procedimientos Quirúrgicos Robotizados , Rehabilitación de Accidente Cerebrovascular , Accidente Cerebrovascular , Adulto , Humanos , Terapia por Ejercicio , Marcha , Estudios Prospectivos , Accidente Cerebrovascular/complicaciones , Resultado del Tratamiento , Caminata
14.
Int J Geriatr Psychiatry ; 37(10)2022 Aug 31.
Artículo en Inglés | MEDLINE | ID: mdl-36069187

RESUMEN

INTRODUCTION AND OBJECTIVES: Early dementia diagnosis in low and middle-income countries (LMIC) is challenging due to limited availability of brief, culturally appropriate, and psychometrically validated tests. Montreal Cognitive Assessment (MoCA) is one of the most widely used cognitive screening tests in primary and secondary care globally. In the current study, we adapted and validated MoCA in five Indian languages (Hindi, Bengali, Telugu, Kannada, and Malayalam) and determined the optimal cut-off points that correspond to screening for clinical diagnosis of dementia and MCI. METHODS: A systematic process of adaptation and modifications of MoCA was fulfilled. A total of 446 participants: 214 controls, 102 dementia, and 130 MCI were recruited across six centers. RESULTS: Across five languages, the area under the curve for diagnosis of dementia varied from 0.89 to 0.98 and MCI varied from 0.73 to 0.96. The sensitivity, specificity and optimum cut-off scores were established separately for five Indian languages. CONCLUSIONS: The Indian adapted MoCA is standardized and validated in five Indian languages for early diagnosis of dementia and MCI in a linguistically and culturally diverse population.

16.
Int J Lang Commun Disord ; 57(4): 881-894, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35522006

RESUMEN

BACKGROUND: Picture-naming tests (PNTs) evaluate linguistic impairment in dementia due to semantic memory impairment, impaired lexical retrieval or perceptual deficits. They also assess the decline in naming impairment at various stages of dementia and mild cognitive impairment (MCI) that occurs due to progressive cognitive impairment. With the increasing numbers of people with dementia globally, it is necessary to have validated naming tests and norms that are culturally and linguistically appropriate. AIMS: In this cross-sectional study we harmonized a set of 30 images applicable to the Indian context across five languages and investigated the picture-naming performance in patients with MCI and dementia. METHODS & PROCEDURES: A multidisciplinary expert group formed by the Indian Council of Medical Research (ICMR) collaborated towards developing and adapting a picture naming test (PNT) known as the ICMR-PNT in five Indian languages: Hindi, Bengali, Telugu, Kannada and Malayalam. Based on cross-cultural adaptation guidelines and item-wise factor analysis and correlations established separately across five languages, the final version of the ICMR-PNT test was developed. A total of 368 controls, 123 dementia and 128 MCI patients were recruited for the study. Psychometric properties of the adapted version of the ICMR-PNT were examined, and sensitivity and specificity were examined. OUTCOMES & RESULTS: The ICMR-PNT scores in all languages combined were higher in controls compared with patients with dementia and MCI (F2, 615 = 139.85; p < 0.001). Furthermore, PNT scores for MCI was higher in comparison with patients with dementia in all languages combined (p < 0.001). The area under the curve across the five languages ranged from 0.81 to 1.00 for detecting dementia. There was a negative correlation between Clinical Dementia Rating (CDR) and ICMR-PNT scores and a positive correlation between Addenbrooke's Cognitive Examination-III (ACE-III) and ICMR-PNT scores in control and patient groups. CONCLUSIONS & IMPLICATIONS: The ICMR-PNT was developed by following cross-cultural adaptation guidelines and establishing correlations using item-wise factor analysis across five languages. This adapted PNT was found to be a reliable tool when assessing naming abilities effectively in mild to moderate dementia in a linguistically diverse context. WHAT THIS PAPER ADDS: What is already known on this subject Picture-naming evaluates language impairment linked to naming difficulties due to semantic memory, lexical retrieval or perceptual disturbances. As a result, picture naming tests (PNTs) play an important role in the diagnosis of dementia. In a heterogeneous population such as India, there is a need for a common PNT that can be used across the wide range of languages. What this study adds to existing knowledge PNTs such as the Boston Naming Test (BNT) were developed for the educated, mostly English-speaking, Western populations and are not appropriate for use in an Indian context. To overcome this challenge, a PNT was harmonized in five Indian languages (Hindi, Bengali, Telugu, Kannada and Malayalam) and we report the patterns of naming difficulty in patients with MCI and dementia. The ICMR-PNT demonstrated good diagnostic accuracy when distinguishing patients with mild to moderate dementia from cognitively normal individuals. What are the potential or actual clinical implications of this work? With the growing number of persons suffering from Alzheimer's disease and other forms of dementia around the world, its critical to have culturally and linguistically relevant naming tests and diagnosis. This validated ICMR-PNT can be used widely as a clinical tool to diagnose dementia and harmonize research efforts across diverse populations.


Asunto(s)
Enfermedad de Alzheimer , Disfunción Cognitiva , Demencia , Enfermedad de Alzheimer/psicología , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/psicología , Estudios Transversales , Demencia/complicaciones , Demencia/diagnóstico , Demencia/psicología , Humanos , Pruebas de Estado Mental y Demencia , Pruebas Neuropsicológicas
19.
Acta Neurol Scand ; 145(4): 399-406, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34841512

RESUMEN

BACKGROUND: Recently, TANK binding kinase 1 (TBK1) mutation has been reported as a causative gene for overlap frontotemporal dementia (FTD)-amyotrophic lateral sclerosis (ALS) syndrome. However, there are no reports from families of South Asian ethnicity. OBJECTIVE: To report a case study of a family with the proband having overlap FTD-ALS syndrome caused by a novel TBK1 variant. MATERIALS AND METHODS: Clinical, brain imaging, genetic analysis and laboratory data of the patient with FTD-ALS were performed. In addition, family-based segregation analysis of identified novel variants was also done. RESULTS: This study pertains to genetic analysis in 11 members in a family with only one member affected with overlap FTD-ALS syndrome. The whole-exome sequencing analysis in the symptomatic member showed a novel loss-of-function (LoF) variant c.1810G>T(p.E604X) in the TBK1 gene. Neuroimaging showed a pattern of asymmetric frontotemporal atrophy and hypometabolism. Segregation analysis of the variation demonstrated its presence in several family members, although none of the other members was symptomatic. Further, we observed another missense variation in the NEFH gene (p.Pro683Leu) which was seen in the symptomatic and two asymptomatic family members, the pathogenicity of which is unclear. CONCLUSION: This is the first study of a rare novel TBK1 variant associated with FTD-ALS from India. Asymptomatic family members with the variant have important clinical implications and necessitate the genetic evaluation and long-term follow-up of family members of patients detected with TBK1 mutations. Therefore, although infrequent, genetic screening for the TBK1 gene should be considered when encountering overlap FTD syndromes.


Asunto(s)
Esclerosis Amiotrófica Lateral , Demencia Frontotemporal , Proteínas Serina-Treonina Quinasas , Esclerosis Amiotrófica Lateral/diagnóstico , Demencia Frontotemporal/diagnóstico por imagen , Demencia Frontotemporal/genética , Pruebas Genéticas , Humanos , Mutación , Proteínas Serina-Treonina Quinasas/genética
20.
Front Neurol ; 12: 661269, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34733226

RESUMEN

Objectives: The growing prevalence of dementia, especially in low- and middle-income countries (LMICs), has raised the need for a unified cognitive screening tool that can aid its early detection. The linguistically and educationally diverse population in India contributes to challenges in diagnosis. The present study aimed to assess the validity and diagnostic accuracy of the Indian Council of Medical Research-Neurocognitive Toolbox (ICMR-NCTB), a comprehensive neuropsychological test battery adapted in five languages, for the diagnosis of dementia. Methods: A multidisciplinary group of experts developed the ICMR-NCTB based on reviewing the existing tools and incorporation of culturally appropriate modifications. The finalized tests of the major cognitive domains of attention, executive functions, memory, language, and visuospatial skills were then adapted and translated into five Indian languages: Hindi, Bengali, Telugu, Kannada, and Malayalam. Three hundred fifty-four participants were recruited, including 222 controls and 132 dementia patients. The sensitivity and specificity of the adapted tests were established for the diagnosis of dementia. Results: A significant difference in the mean (median) performance scores between healthy controls and patients with dementia was observed on all tests of ICMR-NCTB. The area under the curve for majority of the tests included in the ICMR-NCTB ranged from 0.73 to 1.00, and the sensitivity and specificity of the ICMR-NCTB tests ranged from 70 to 100% and 70.7 to 100%, respectively, to identify dementia across all five languages. Conclusions: The ICMR-NCTB is a valid instrument to diagnose dementia across five Indian languages, with good diagnostic accuracy. The toolbox was effective in overcoming the challenge of linguistic diversity. The study has wide implications to address the problem of a high disease burden and low diagnostic rate of dementia in LMICs like India.

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