Search

Your search keyword '"Holla, Vikram V."' showing total 15 results
Start Over Author "Holla, Vikram V." Journal movement disorders clinical practice
15 results on '"Holla, Vikram V."'

3. 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
Full Text
View/download PDF

8. A Rare Case of Ophthalmoplegia with Ataxia in Genetically Proven Abetalipoproteinemia

Author

Gurram, Sandeep, primary, Holla, Vikram V., additional, Sriram, Neeharika, additional, Phulpagar, Prashant, additional, Jha, Shreyashi, additional, Sharma, Praveen, additional, Mallithavana, Siddaya, additional, Kamble, Nitish, additional, Netravathi, Manjunath, additional, Yadav, Ravi, additional, Muthusamy, Babylakshmi, additional, and Pal, Pramod Kumar, additional

Published
2022
Full Text
View/download PDF

9. A Rare Case of Ophthalmoplegia with Ataxia in Genetically Proven Abetalipoproteinemia.

Author

Gurram, Sandeep, Holla, Vikram V., Sriram, Neeharika, Phulpagar, Prashant, Jha, Shreyashi, Sharma, Praveen, Mallithavana, Siddaya, Kamble, Nitish, Netravathi, Manjunath, Yadav, Ravi, Muthusamy, Babylakshmi, and Pal, Pramod Kumar

Subjects
*EYE paralysis, *ATAXIA, *MOVEMENT disorders, *ESSENTIAL tremor, *FAT-soluble vitamins, *SYMPTOMS, *DEEP brain stimulation
Abstract

Keywords: abetalipoproteinemia; ophthalmoplegia; ataxia; MTTP EN abetalipoproteinemia ophthalmoplegia ataxia MTTP 514 517 4 03/23/23 20230301 NES 230301 Abetalipoproteinemia is an uncommon potentially treatable cause of early-onset ataxia associated with retinitis pigmentosa and acanthocytes. Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia. However, atypical retinal pigmentation retinopathy and diarrhea with fat malabsorption favored abetalipoproteinemia over other diagnostic possibilities. [Extracted from the article]

Published
2023
Full Text
View/download PDF

10. Mirror Movements and Dystonia in SRD5A3‐Related Congenital Disorders of Glycosylation: Expanding the Phenotypic and Genotypic Spectrum.

Author

Holla, Vikram V., Rangarajan, Anush, Arunachal, Gautham, Muthusamy, Babylakshmi, Kamble, Nitish, Yadav, Ravi, Pal, Pramod Kumar, and Netravathi, Manjunath

Subjects
*CONGENITAL disorders, *MOVEMENT disorders, *DYSTONIA, *GLYCOSYLATION, *GENOTYPES, *PHENOTYPES
Abstract

Keywords: CDG-1q; SRD5A3; mirror movements; congenital disorder of glycosylation; dystonia EN CDG-1q SRD5A3 mirror movements congenital disorder of glycosylation dystonia 510 513 4 03/23/23 20230301 NES 230301 Congenital disorders of glycosylation (CDG) are a complex heterogenous group of genetic disorders with a broad spectrum of clinical presentation due to defective glycosylation of various proteins and lipids. Mirror Movements and Dystonia in SRD5A3-Related Congenital Disorders of Glycosylation: Expanding the Phenotypic and Genotypic Spectrum There are only a few reports of dystonia[[1], [3]] and no reports of mirror movements (MM) in CDG- I SRD5A3 i . [Extracted from the article]

Published
2023
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results