Babylakshmi Muthusamy

Clinical, Radiological, and Genetic Profile of Patients with FA2H-Associated Neurodegeneration: Eight Cases from India and a Review of the Literature

VikramVenkayappa Holla, Riyanka Kumari, Neeharika Sriram, Nitish Kamble et autres

Background: , which encodes fatty acid 2-hydroxylase. Objective: To report the clinical, electrophysiological, radiological, and genetic profile of patients diagnosed with FAHN. Methods: We performed a retrospective chart review of genetically proven cases of FAHN from our database. Results: We identified eight …

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Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India

Subhajit Roy, Cheshta Arora, VikramVenkayappa Holla, Shweta Prasad et autres

Background: Type-III (adult/chronic) GM1 gangliosidosis is an uncommon, late-onset lysosomal disorder that frequently presents as a complex movement disorder. Methods: In this retrospective case series, clinical details, neuroimaging, electrophysiology, and genetics were extracted from standardized records and videos. Results: Eight patients were …

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Clinical, Radiological, and Therapeutic Profiles of Patients With DYT-TOR1A: A Single-Center Study in India and Literature Review of the Asian MDSGene Cohort

M K Farsana, Vikram V. Holla, Debjyoti Dhar, Hansashree Padmanabha et autres

OBJECTIVE: This study aimed to characterize the phenotypic spectrum and therapeutic outcomes of patients of Indian and Asian origin with DYT-TOR1A. METHODS: A retrospective chart review of patients with genetically confirmed DYT-TOR1A (c.907_909delGAG; p.Glu303del variant) from a tertiary care center in India. …

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Expanding the genotypic and phenotypic spectrum of DYT-TSPOAP1: First report from India

Vikram V. Holla, Debjyoti Dhar, Riyanka Kumari, Nitish Kamble et autres

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Clinical Profile and Genetic Composition of Patients With Juvenile Parkinsonism From a Single Tertiary Care Center in India

M K Farsana, Vikram V. Holla, Prashant Phulpagar, Nitish Kamble et autres

OBJECTIVE: : Studies outlining the genetic architecture of Parkinson's disease in India are sparse, and juvenile parkinsonism is underrepresented in the literature. The objective was to study the clinical, therapeutic, and genetic profiles of patients with juvenile parkinsonism and to correlate their …

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Genetic architecture of 230 Indian Parkinson's disease patients from a single centre

Suneel D. Kamath, Prashant Phulpagar, Vikram V. Holla, Nitish Kamble et autres

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Clinico-genetic analysis of patients with LRRK2-related Parkinson's disease from a referral centre in India

Shivani Rath, Vikram V. Holla, Prashant Phulpagar, Sneha Kamath et autres

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PRKN-Gene-Related Parkinsonism: An Experience from a Tertiary Centre and Literature Review of Asian Cohort

Vikram V. Holla, Debjyoti Dhar, Prashant Phulpagar, Mahammad Samim Mondal et autres

ABSTRACT: Background: PRKN-related parkinsonism represents one of the most common types of genetically determined Parkinson’s disease (PD). However, the literature among the Asian ethnicity, particularly in the Indian context, is limited. Objective: To study the clinico-genetic profile of patients with PRKN-related parkinsonism …

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C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN)

Riyanka Kumari, Vikram V. Holla, Neeharika Sriram, Nitish Kamble et autres

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Genetic architecture of a single cohort of 230 Indian Parkinson's Disease patients

Sneha Kamath, Prashant Phulpagar, Vikram V. Holla, Nitish Kamble et autres

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Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson’s Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature

Vikram V. Holla, Prashant Phulpagar, Sneha Kamath, Nitish Kamble et autres

OBJECTIVE: Recessive variants in the PINK1 gene are known causes of early-onset Parkinson's disease (EOPD). To describe the clinical features and genetic profiles of patients with PINK1-related Parkinson's disease (PARK-PINK1) mutations. METHODS: We conducted a retrospective chart review of the demographic, clinical …

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Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix–Saguenay: Insights From a Case Series of Seven Patients–A Single-Center Study and Review of an Indian Cohort

Mit Ankur Raval, Vikram V. Holla, Nitish Kamble, Gautham Arunachal et autres

OBJECTIVE: In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). METHODS: We performed a retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed the literature …

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