Annals of Indian Academy of Neurology最新文献

Neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), are severe inflammatory autoimmune diseases of the central nervous system. Our objective was to investigate the effects of tocilizumab (TCZ) in patients with refractory NMOSD and MOGAD, as measured by the annualized relapse rate (ARR). A prospective study was done in the Department of Neurology at Nizam's Institute of Medical Sciences, Hyderabad, from February 2021 to December 2024. Clinical details and imaging observations were recorded in a proforma. Patients with refractory NMOSD and MOGAD were given an injection of TCZ (8 mg/kg) infusion every month. Five patients were included in our cohort, with a male-to-female ratio of 2:3. Two had aquaporin-4 antibody, and three had MOG Ab positivity. The mean age of presentation was 16.8 ± 2.14 years (range 9 to 30 years). All patients showed significant improvement, with a post-treatment ARR of 0. The mean duration of follow-up was 3 ± 2.09 years. This study supports TCZ as a therapeutic option in severe refractory disease with recurrent presentations, incomplete recovery, and severe Expanded Disability Status Scale.

While ATPase Copper Transporting Beta ( ATP7B ), Dystonia-1 ( DYT-1 ), Lysine (K) Methyl transferase 2B ( KMT2B ), and Adenylate Cyclase 5 ( ADCY5 ) gene mutations are well-characterized causes of childhood-onset choreo-dystonic movement disorders, G protein subunit alpha O1 (GNAO1)-related disorders are not commonly suspected. The GNAO1 gene is crucial for neuronal transmission, and its mutation has been linked to neurodevelopmental delay, infantile-onset epilepsy, and movement disorders. To the best of our knowledge, only five Indian cases have been reported to date. We report a 9-year-old girl with predominant choreo-dystonic manifestations along with dyskinetic storm, i.e., episodes of significant worsening in involuntary movements following febrile episodes. Her brain magnetic resonance imaging (MRI) was unremarkable. She presented to us in a dyskinetic crisis, which responded to oral haloperidol. Thus, GNAO1 -related disorder must be suspected in a child with developmental delay, infantile- to childhood-onset seizures with/without movement disorders, along with episodes of dyskinetic crisis related to stress or febrile episodes.

Background and objectives: Cenobamate (CNB) was approved in the US in 2020 and showed 12% seizure freedom in drug-resistant epilepsy (DRE) in pivotal trials. The open-label extension (OLE) study reported 13%-16% seizure freedom and sustained responder rates over 4 years. It is unclear how much of the treatment benefit during OLE was attributable to CNB, as people could have received other treatments. This study aimed to assess CNB efficacy and safety over an extended follow-up.

Methods: This retrospective study was conducted among adults with DRE, treated with CNB between May 2020 and Dec 2023, at the University of California, Davis. Data on demographics, epilepsy history, CNB dose, seizure frequencies, adverse events, and treatment changes were collected. Treatment failure was considered if CNB was withdrawn for any reason or if another epilepsy treatment was needed after starting CNB.

Results: Sixty people with epilepsy (PWE) were included, with 78% having focal epilepsy and 11.3% generalized epilepsy. Over the mean follow-up period of 20.5 months, 56.7% had treatment failure, with a median survival time of 17.2 months. Seizure freedom was seen in 15% of participants, and 90% or more seizure reduction in 21% of participants. Of the failures, 44% were due to incomplete efficacy, 38% were due to adverse effects, and the rest due to a combination of both. Seventy-eight percent of PWE who started CNB were taking it at last follow-up.

Conclusions: CNB shows clinically meaningful efficacy for at least 1.5 years in people with DRE.

The increasing severity of tuberculous meningitis (TBM) carries a poor prognosis. This study aimed to correlate cerebrospinal fluid (CSF)-neutrophil-lymphocyte ratio (NLR) with TBM severity and assess its ability to predict in-hospital mortality. A prospective observational study was conducted from February 2023 to February 2025, enrolling 148 confirmed cases of TBM. The severity of TBM was graded according to the British modified Medical Research Council criteria. The mean age was 38.0 ± 17.6 years, with 69 males and 79 females. Of these, 47 had grade 1, 67 had grade 2, and 34 had grade 3 severity of TBM. The CSF-NLR ratio showed no significant correlation (r = 0.113, P = 0.170) with TBM severity. Thirty-three patients died; among them, 27 had low CSF-NLR (≤0.82), while six had high CSF-NLR (>0.82). A CSF-NLR cut-off value of 0.82 had a diagnostic accuracy of 39.19% (sensitivity 81.82%, specificity 26.96%) for predicting mortality. The results negate the use of CSF-NLR as a diagnostic marker for grading TBM severity or predicting mortality.