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Anti-NMDAR encephalitis is an autoimmune encephalitis with a typical clinical progression. Patients can often present to psychiatric outpatient departments (OPDs) mimicking psychiatric illnesses. In this case series, we have described two cases of adolescent age group that were eventually diagnosed with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis. They had presented to psychiatry OPD and were admitted to the psychiatry ward. Both cases had predominantly, although varied, psychiatric symptoms with a variable course, response to treatment and prognosis. We have tried to speculate if initial presentation in anti-NMDAR encephalitis can be suggestive or can predict response to treatment and prognosis in a patient. We advocate a high degree of suspicion for psychiatrists toward patients presenting acutely in the first episode of mania or psychosis, particularly in adolescent age group. Copyright © 2020 Annals of Indian Academy of Neurology.Subacute onset of a mixed movement disorder should alert the clinician to the possibility of an autoimmune or paraneoplastic cause of symptoms. Striational antibodies have been associated with myasthenia gravis but a mixed movement disorder has been rarely reported with this antibody. We report a 90-year-old female who presented with generalized chorea, blepharospasm, and parkinsonism. Extensive evaluation was done which showed an elevation in striational antibody and there was no evidence of malignancy. The patient responded dramatically to intravenous steroids. We suggest that striational antibody should be routinely tested as a part of the work-up for autoimmune or paraneo lastic movement disorder. The presence of chorea in a very elderly patient should not be dismissed as "senile chorea" and a search for treatabl etiology should always be performed. Copyright © 2020 Annals of Indian Academy of Neurology.For the first time, human immunodeficiency virus (HIV)-associated vacuolar myelopathy (VM) was detailed in an autopsy-based study of 89 cases in 1985. This condition is the most common cause for spinal cord lesions in HIV patients. VM's pathogenic mechanism remains unclear; however, it is assumed that the disease can be related to both, the direct neurotoxic impact of the HIV and HIV-induced activation of immunopathological processes in the central nervous system (CNS). Reviewed in this paper is a case where the VM presentation deteriorated drastically when treated with highly active antiretroviral therapy, and almost completely regressed after the patient received the intravenous immunoglobulin (IVIg) treatment. The considered case demonstrates the viability of IVIg treatment in patients with HIV-associated CNS pathology, particularly when autoimmune reactions are suspected. The results of placebo-controlled studies of IVIg in patients with HIV-associated myelopathy may give a reliable evaluation of IVIg use in this context. Copyright © 2020 Annals of Indian Academy of Neurology.Background Myasthenia gravis (MG) is an autoimmune disorder with a chronic fluctuating course. The outcome measures encapsulate disease severity, functional impact at diagnosis, and objective evaluation of clinical benefit from therapeutic interventions. Aims and Objective To assess the disease severity, correlation between various outcome measures, and to evaluate the short-term outcome at 3 months and 6 months in a cohort of MG patients. Materials and Methods Quantitative myasthenia gravis (QMG) score, myasthenia gravis composite (MGC) score, and myasthenia gravis quality of life-15 (MG-QoL-15) score were applied to 54 patients at first visit, 3 months and 6 months follow-up. Results Mean quality of life-15 (QoL-15) score at base line was 15.241. Mean QMG and MGC scores at baseline were 14.63 ± 8.37 and 15.87 ± 9.14, respectively. QMG score showed a strong positive correlation with both MGC and MG-QoL-15 scores. QMG and MGC scores showed a moderate correlation with acetylcholine receptor antibody (AChR Ab) titers. Mean QMG at follow-up was 9.95 ± 5.49 at 3 months and 6.74 ± 4.74 at 6 months. Mean MGC at follow-up was 10.75 ± 5.58 at 3 months and 6.51 ± 4.36 at 6 months. Conclusion The combination of physician-evaluated and patient-reported outcome measures provided a more discerning picture of patient status and response to treatment. Incorporating MG outcome measures into clinical practice would aid in modulating therapies. Copyright © 2020 Annals of Indian Academy of Neurology.Background Chorea is one of the disabling movement disorders, and the number of drugs which can treat this disorder effectively is limited. Tetrabenazine and deutetrabenazine are the two drugs approved by the US-FDA for the treatment of chorea associated with HD. Levodopa can improve chorea in some disorders, and this review aims to provide information on the use of levodopa in chorea. Methods A literature search was performed in February 2019 using the following terms "levodopa chorea," "levodopa TITF-1," levodopa brain-lung-thyroid syndrome," and "levodopa Huntington's Disease." The information regarding the etiology, outcome, and dose of levodopa was collected. Results We found a total of 18 cases in the literature where the benefit was reported with levodopa. Majority of the cases were brain-thyroid-lung (BTL) syndrome (50%). Another 5 cases were HD (Huntington's Disease), one with PCH type 2 (Pontocerebellar hypoplasia type 2), one with meningovascular syphilis, and two patients with Sydenham chorea. The patients with BTL syndrome responded to a very low dose of levodopa. Discussion This review suggests that levodopa has the potential to improve chorea in BTL syndrome while its use in chorea due to other disorders requires further study. BTL syndrome due to NKX2-1 mutation responded to levodopa while we did not find any case of chorea due to ADCY-5 mutation responding to levodopa. Copyright © 2020 Annals of Indian Academy of Neurology.Background and Aims PCDH19 gene, which encodes protocadherin 19, is associated with epilepsy and intellectual disability, mainly in affected females. The clinical manifestations are heterogeneous and the main features include early onset seizure, generalized or focal seizures sensitive to fever, and brief seizures occurring in clusters. The disorders exhibit a unique and unusual X-linked pattern of expression. We aimed to investigate PCDH19 mutations/deletions in patients with epilepsy and describe the clinical/molecular features. Methods PCDH19 gene was analyzed in 35 Turkish female patients from 34 families with early-onset epilepsy via direct sequencing and multiplex ligation-dependent probe amplification analysis. Additionally, array comparative genomic hybridization analysis was performed in patients with whole gene deletion. Auranofin Results We identified 2 different heterozygous mutations in 2 unrelated probands (5. 7%) which were located in exon 1. Additionally, whole gene deletions were detected in dizygotic twin girls (5.
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