Publications by authors named "Riyanka Kumari"
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFThe Clinical, Radiological and Genetic Spectrum of -Associated Neurodegeneration: An Experience From a Tertiary Center.
Tremor Other Hyperkinet Mov (N Y)
August 2024
Background: Despite being the second most common type of neurodegeneration with brain iron accumulation, there is limited literature on -associated neurodegeneration (PLAN) within the Asian ethnicity, particularly in the Indian context.
Methods: We conducted a retrospective observational study on patients with pathogenic/likely pathogenic variants based on exome sequencing.
Results: We identified 26 patients (22 families, 15 males) of genetically-confirmed PLAN with a median age of 22.
Background: The genetics of dystonia have varied across different ethnicities worldwide. Its significance has become more apparent with the advent of deep brain stimulation.
Objective: To study the clinico-genetic profile of patients with probable genetic dystonia using whole exome sequencing (WES).
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.
Objective: aaMutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations.
Methods: aaWe report seven patients with KMT2B-related dystonia studied prospectively from May 2021 to September 2022.
Introduction: Pantothenate kinase-associated neurodegeneration (PKAN) is the most common "Neurodegeneration with Brain Iron Accumulation" disorder. This study aimed to study the clinical, radiological and genetic profiling of a large cohort of patients with PKAN.
Methods: This is an ambispective hospital-based single centre study conducted at a tertiary care centre from India.
Article Synopsis
- Woodhouse-Sakati syndrome (WSS) is a rare disorder with neuroendocrine issues, presenting symptoms like hypogonadism, diabetes, and intellectual disability, along with specific brain imaging features.
- The condition is linked to mutations in the DCAF17 gene, which is crucial for certain protein functions, and in this study, a 17-year-old boy exhibited classic signs of WSS.
- Whole exome sequencing identified a new mutation in the DCAF17 gene that disrupts normal protein production, furthering understanding of WSS's genetic variability.