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296 results on '"Holla, Vikram V."'

16. Co-VAN study: COVID-19 vaccine associated neurological diseases- an experience from an apex neurosciences centre and review of the literature

Author

Samim, M.M., Dhar, Debjyoti, Arshad, Faheem, Anudeep, D.D.S., Patel, Vishal G., Neeharika, Sriram Ramalakshmi, Dhamija, Kamakshi, Ravindranath, Chowdary Mundlamuri, Yadav, Ravi, Raja, Pritam, Netravathi, M., Menon, Deepak, Holla, Vikram V., Kamble, Nitish L., Pal, Pramod K., Nalini, Atchayaram, and Vengalil, Seena

Published
2023
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23. Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration

Author

Saini, Arti, primary, Holla, Vikram V., additional, Kalikavil Puthanveedu, Divya, additional, Mehta, Sahil, additional, Elavarasi, Arunmozhimaran, additional, Pillai, Kanchana Soman, additional, Mohapatra, Prachi, additional, Kumari, Riyanka, additional, Bari, Shreya, additional, Singh, Inder, additional, Cherian, Ajith, additional, Krishnan, Syam, additional, Radhakrishnan, Divya M., additional, Agarwal, Ayush, additional, Garg, Divyani, additional, Garg, Kanwaljeet, additional, Singh, Manmohan, additional, Garg, Ajay, additional, Muthusamy, Babylakshmi, additional, Lal, Vivek, additional, Kishore, Asha, additional, Pal, Pramod Kumar, additional, Srivastava, Achal, additional, Faruq, Mohammed, additional, and Rajan, Roopa, additional

Published
2024
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26. Quantification and Clinical Correlation of Posterior Cranial Fossa Cerebrospinal Fluid Volume in Primary Hemifacial Spasm Using Magnetic Resonance Imaging.

Author

D. D. S., Anudeep, Kulanthaivelu, Karthik, Holla, Vikram V., Kamble, Nitish, Yadav, Ravi, Pal, Pramod Kumar, and Mahale, Rohan R.

Subjects
CEREBROSPINAL fluid examination, CROSS-sectional method, DISEASE duration, SEX distribution, MAGNETIC resonance imaging, SEVERITY of illness index, FACIAL nerve, CASE-control method, SKULL, SPASMS, CEREBROSPINAL fluid, BIOMARKERS, DISEASE risk factors
Abstract

Background and Objective: Primary hemifacial spasm (HFS) is caused by neurovascular conflict (NVC) at the root entry zone of the facial nerve. Whether reduction of posterior cranial fossa (PCF) cerebrospinal fluid (CSF) volume is a risk factor for HFS is not clear. The study aims at the radiologic assessment of PCF CSF volume and its clinical correlation. Methods: A cross-sectional, hospital-based, case--control study was conducted, in which 50 cases of primary HFS and 50 age- and sex-matched controls were recruited. PCF CSF volume was quantified in 3-T brain magnetic resonance imaging. Results: The mean age at presentation of cases was 50.7 ± 10.7 years (42-69 years) and controls was 52.4 ± 8.7 years (45-68 years). The mean duration of symptoms was 3.5 ± 1.3 years (1.5-8 years). About 52% of patients had grade 2 (mild) severity of HFS. The mean PCF CSF volume of patients was 13,725.1 ± 909.5 mm3 and controls was 14,458.5 ± 973.5 mm³p (P < 0.001). The mean PCF CSF volume of females with HFS was 13,714.8 ± 852.5 mm³ and female controls was 14,521.8 ± 973.5 mm³ (P = 0.006). PCF CSF volume was significantly associated with the presence of HFS (P = 0.007), the severity of HFS (P < 0.001), and the presence of NVC (P = 0.02). Conclusion: PCF CSF volume was lesser in HFS patients and was associated with the presence of HFS, the severity of HFS, and the presence of NVC. Females with HFS had smaller PCF CSF volume. Small PCF CSF volume is a risk factor for HFS, particularly in females with HFS. [ABSTRACT FROM AUTHOR]

Published
2024
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34. Dystonia in a Patient with Genetically Proven Salih Ataxia Due to a Novel Truncating Variant: Expanding the Genotypic and Phenotypic Spectrum.

Author

Kamble, Nitish, Holla, Vikram V., Katragadda, Pavan Kumar, Muthusamy, Babylakshmi, and Pal, Pramod Kumar

Subjects
*NEUROLOGICAL disorders, *CEREBELLAR ataxia, *HEPATOLENTICULAR degeneration, *EXOTROPIA, *SEIZURES (Medicine), *EPILEPSY, *TREMOR
Abstract

The article discusses a case study of a 20-year-old male patient with genetically proven Salih ataxia due to a novel truncating variant in the RUBCN gene. The patient presented with seizures, intellectual disability, and tremulousness of both upper limbs, among other symptoms. The study expands the phenotypic and genotypic spectrum of SCAR15, a rare disorder characterized by early-onset ataxia, cognitive impairment, and dysarthria. The identified variant in the RUBCN gene is classified as likely pathogenic, leading to endolysosomal machinery defects and impacting autophagy and lipid metabolism. The article highlights the importance of considering RUBCN-related ataxia in patients with childhood-onset ataxia, dystonia, epilepsy, and intellectual disability, especially when cerebellar atrophy is absent. [Extracted from the article]

Published
2024
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36. Unmasking bipolarity in recurrent depressive disorder following herpes simplex virus triggered n-methyl-D-aspartate encephalitis.

Author

Narasimhappa, Karthik, Mamtani, Harkishan, Jain, Kshiteeja, Holla, Vikram V., Ganjekar, Sundarnag, Manjunath, Netravathi, Kulanthaivelu, Karthik, and Desai, Geetha

Subjects
HERPES simplex virus, MENTAL depression, ENCEPHALITIS, MANIA, METHYL aspartate, VIRAL encephalitis
Abstract

Objective: Herpes simplex virus (HSV) infection triggered n-methyl-D-aspartate (NMDA) encephalitis can lead to varied neuropsychiatric manifestations, including movement disorders and manic symptoms. HSV is known to affect the same brain regions as in secondary mania. Method: We present a 35-year-old female diagnosed with recurrent depressive disorder (RDD) who developed NMDA encephalitis triggered by HSV infection. Result: HSV-triggered NMDA encephalitis led to a manic switch in a woman with RDD on antidepressants, along with the new onset of dyskinetic movements. Conclusion: A neurological insult predisposed our patient to the variable effects of antidepressant drugs. [ABSTRACT FROM AUTHOR]

Published
2024
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47. Novel CWF19L1mutations in patients with spinocerebellar ataxia, autosomal recessive 17

Author

Phulpagar, Prashant, Holla, Vikram V., Tomar, Deepti, Kamble, Nitish, Yadav, Ravi, Pal, Pramod Kumar, and Muthusamy, Babylakshmi

Abstract

Spinocerebellar ataxia, autosomal recessive-17 (SCAR17) is a rare hereditary ataxia characterized by ataxic gait, cerebellar signs and occasionally accompanied by intellectual disability and seizures. Pathogenic mutations in the CWF19L1gene that code for CWF19 like cell cycle control factor 1 cause SCAR17. We report here two unrelated families with the clinical characteristics of global developmental delay, cerebellar ataxia, pyramidal signs, and seizures. Cerebellar atrophy, and T2/FLAIR hypointense transverse pontine stripes were observed in brain imaging. Exome sequencing identified novel homozygous mutations including a splice acceptor site variant c.1375-2 A > G on intron 12 in a male patient and a single nucleotide variant c.452 T > G on exon 5 resulting in a missense variant p.Ile151Ser in the female patient from two unrelated families, respectively. Sanger sequencing confirmed the segregation of these variants in the family members with autosomal recessive inheritance. Transcript analysis of the splice site variant revealed activation of a novel cryptic splice acceptor site on exon 13 resulting in an alternative transcription with a loss of nine nucleotides on exon 13. Translation of this transcript predicted an in-frame deletion of three amino acids p.(459_461del). We also observed a novel exon 13 skipping which results in premature termination of the protein product. Our study expands the phenotype, radiological features, and genotypes known in SCAR17.

Published
2023
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48. Loss of function variants in L2HGDHgene causing l-2-hydroxyglutaric aciduria

Author

Bellad, Anikha, Holla, Vikram V., Kumari, Riyanka, Kamble, Nitish, Yadav, Ravi, Pandey, Akhilesh, Pal, Pramod Kumar, and Muthusamy, Babylakshmi

Abstract

Background: l-2-Hydroxyglutaric aciduria (L2HGA) is a rare progressive neurometabolic disorder with variable clinical presentation including cerebellar ataxia, psychomotor retardation, seizures, macrocephaly and speech problems. In this study, we aimed at identifying the genetic cause in two unrelated families suspected with L2HGA. Methods: Exome sequencing was performed on two patients from family 1 with suspected L2HGA. MLPA analysis was carried out on the index patient of family 2 to detect deletions/duplications in the L2HGDHgene. Sanger sequencing was carried out to validate the identified variants and to confirm segregation of the variants in the family members. Results: In family 1, a novel homozygous variant c.1156C > T resulting in a nonsense mutation p.Gln386Ter was identified in the L2HGDHgene. The variant segregated with autosomal recessive inheritance in the family. In family 2, a homozygous deletion of exon 10 in the L2HGDHgene was identified in the index patient using MLPA analysis. PCR validation confirmed the presence of the deletion variant in the patient which is not present in the unaffected mother or an unrelated control. Conclusion: This study identified novel pathogenic variants in the L2HGDHgene in patients with L2HGA. These findings contribute to the understanding of the genetic basis of L2HGA and highlight the importance of genetic testing for diagnosis and genetic counseling of affected families.

Published
2023
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