Publications by authors named "Seshagiri Dv"
A 16-year-old adolescent girl presented with progressive walking imbalance, uncoordination of her limbs, impaired proprioceptive sensation distal to her wrists and ankles, and sensorineural hearing loss. Her evaluation revealed diffuse cerebellar atrophy, a demyelinating neuropathy, and hypergonadotropic hypogonadism. In this article, we present a systematic approach to a patient with early-onset ataxia, cerebellar atrophy, and demyelinating neuropathy.
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- The study investigates the prevalence and severity of sleep-disordered breathing (SDB) in acute ischemic stroke patients, finding that a significant majority exhibited some level of SDB.
- Over two sleep evaluations, nearly 82% of patients had sleep apnea, with 12.5% classified as severe; however, follow-up showed improvement in sleep metrics.
- Highlights include a reduction in arousal index scores and increased sleep efficiency and REM sleep duration over time, suggesting that SDB can improve after stroke with monitoring and possibly intervention.
Objective: To explore sleep patterns in individuals with Essential Tremor (ET) and Essential Tremor Plus (ET-Plus), compared to healthy controls, and assess differences between ET and ET-Plus, given the lack of established polysomnography (PSG) data on these groups and the potential for sleep disturbances to serve as clinical markers.
Methods: We conducted a prospective cross-sectional study at NIMHANS, Bengaluru, from November 2021 to August 2023 on 45 patients (26 ET, 19 ET-Plus) and 45 controls. Tremor severity was assessed using TETRAS and FTMTRS, and sleep symptoms with ESS, PSQI, Mayo Sleep Questionnaire, RLS-Q, BQ, GAD-7 and PHQ-9.
Article Synopsis
- Tropical ataxic neuropathy (TAN) is a condition that involves problems with movement, vision, hearing, and has been linked to nutritional/toxic issues, but genetic factors may also play a role.
- A study on 65 patients with TAN utilized various genetic and biochemical analyses to investigate potential mitochondrial dysfunction, finding signs of mitochondrial DNA abnormalities and reduced respiratory chain activity.
- Results showed that TAN has a range of genetic abnormalities, suggesting it's not just caused by dietary toxins, which could help in understanding the disease's origins and development.
Article Synopsis
- Approximately 40% of pediatric epilepsies are genetic, with sodium channel mutations being a common cause, particularly noted in the SCN1A gene, which is associated with various epilepsy types.
- This study analyzed 23 children with sodium channel mutations attending a center in Southern India, documenting their clinical signs, EEG results, and treatment impacts.
- The most frequent seizure type was focal with impaired awareness, and associated non-epileptic features included microcephaly and movement disorders, highlighting the need for personalized management in affected patients.
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%).
View Article and Find Full Text PDFBackground: SH3TC2 variations lead to demyelinating recessive Charcot-Marie-Tooth (CMT) disease, which is commonly associated with early-onset scoliosis and cranial neuropathy. Data from Indian ethnicity is limited.
Objective: We aim to report the characteristics of patients with SH3TC2-associated neuropathy from an Indian cohort.
Background: High-level evidence for using steroids in epileptic encephalopathy (EE), other than West syndrome (WS), is lacking. This study investigated the efficacy and safety of pulse intravenous methylprednisolone (IVMP) in EE other than WS.
Methods: This is an open-label evaluator-blinded randomised controlled study.
Background: Myasthenia gravis (MG) is an immune-mediated disorder of the neuromuscular junction. About 10% are refractory to immunosuppressive therapy.
Aims: To analyze the response of patients with generalized MG to rituximab.
Article Synopsis
- Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, but there is limited data on its genetic causes in India; this study uses high throughput sequencing to explore genetic variations in an Indian CMT cohort.
- The study involved 55 patients with suspected inherited neuropathy, revealing a wide range of clinical features and a variety of genetic variations, including novel ones and variants of uncertain significance.
- A genetic diagnosis was achieved in 87% of patients, contributing valuable information to the understanding of CMT and paving the way for future validation studies in cell or animal models.
Article Synopsis
- Guillain-Barré Syndrome (GBS) is linked to antibodies against gangliosides and can be triggered by prior infections, especially in tropical regions like India.* -
- The study analyzed serum antibodies in 150 GBS patients and 50 healthy controls, finding significantly higher levels of antibodies against specific gangliosides in patients, particularly linked to previous Japanese encephalitis infection.* -
- Results reveal a connection between antecedent infections and the development of ganglioside antibodies in GBS, highlighting the role of infections in the disease's immunological processes.*
Background: Though reports of neurological manifestations of COVID-19 have emerged from various parts of the world, the cohorts reported are from the West and mostly derived from electronic databases. Much remains unknown regarding neuro-COVID in developing countries. India is the second-worst affected country, and this study reports the neurological manifestations of COVID-19 in a comprehensively evaluated cohort.
View Article and Find Full Text PDFThe Hereditary Spastic Paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by length dependent degeneration of the corticospinal tracts. Genetic data related to HSPs are limited from India. We aimed to comprehensively analyse the phenotypic characteristics and genetic basis of a large cohort of HSP from India.
View Article and Find Full Text PDFBackground: The IL-33/ST2 immune axis plays crucial roles in infection and immunity. A dysregulated IL-33/ST2 axis can induce autoimmune reaction and inflammatory responses. Guillain-Barré syndrome (GBS) is an acute peripheral neuropathy, mostly caused by post-infection autoimmunity.
View Article and Find Full Text PDFBackground: 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.
Vanishing white matter disease (VWMD) due to mutations is a common leukodystrophy characterised by childhood onset, autosomal recessive inheritance, and progressive clinical course with episodic worsening. There are no reports of genetically confirmed adult patients from India. We describe the phenotype of two adults with genetically confirmed VWMD and typical radiological findings.
View Article and Find Full Text PDFVogt-Koyanagi-Harada (VKH) syndrome is an immune-mediated granulomatous disease which affects melanin-rich organs like eyes, skin, nervous system, and ears. Neurological and auditory manifestations usually precede the involvement of other sites. Patients may manifest with "complete" or "incomplete" syndrome.
View Article and Find Full Text PDFBackground: The clinical spectrum of contactin-associated protein-like 2 (CASPR2) antibody-associated disease is wide and includes Morvan syndrome. Studies describing treatment and long-term outcome are limited.
Aims: We report the clinical profile and emphasize response to treatment and long-term outcome in eight patients with CASPR2-antibody-associated disease.