Leukodystrophies are a broad spectrum of neurological disorders that are characterized
primarily by deficiencies in myelin formation. Clinical manifestations of leukodystrophies …

Lysosomal storage disorders (LSDs) are a group of seventy different metabolic storage
diseases due to accumulation of substrate mainly in the form of carbohydrate, lipids …

Introduction Type 1 GM1 gangliosidosis is an ultra-rare, rapidly fatal lysosomal storage
disorder, with life expectancy of< 3 years of age. To date, only one prospective natural …

Background Neurological disorders are clinically heterogeneous group of disorders and are
major causes of disability and death. Several of these disorders are caused due to genetic …

One of the most important inherited metabolic disorders is GM1 gangliosidosis, which is a
progressive neurological disorder. The main cause of this disease is a genetic defect in the …

Objective Hypomyelinating disorders are a group of clinically and genetically
heterogeneous diseases characterized by neurological deterioration with hypomyelination …

We performed whole genome sequencing (WGS) in nine families from India with early-onset
hereditary spastic paraplegia (HSP). We obtained a genetic diagnosis in 4/9 (44%) families …

Genetic heterogeneity, high burden and the paucity of genetic testing for rare diseases
challenge genomic healthcare for these disorders in India. Here we report our experience …

GM1-gangliosidosis is caused by a reduced activity of β-galactosidase (Glb1), resulting in
intralysosomal accumulations of GM1. The aim of this study was to reveal the pathogenic …

Simple Summary This article focuses on the impairment of lysosomes in the context of
lysosomal storage disorders. Lysosomal storage disorders are a group of rare diseases with …