The neuronal ceroid lipofuscinoses (NCLs), collectively referred to as Batten disease, are a
group of fatal neurodegenerative disorders that primarily affect children. The etiology of …

Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative disorders whose
molecular mechanisms remain largely unknown. Omics approaches are among the methods …

Abstract Neuronal ceroid lipofuscinosis 6 (CLN6) is a rare and fatal autosomal recessive
disease primarily affecting the nervous system in children. It is caused by a pathogenic …

CLN8 is an endoplasmic reticulum cargo receptor and a regulator of lysosome biogenesis
whose loss of function leads to neuronal ceroid lipofuscinosis. CLN8 has been linked to …

Introduction Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare
incurable neurodegenerative disease caused by mutations in the SACS gene, which codes …

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited
neurodegenerative disease characterized by early-onset spasticity in the lower limbs …

Neuronal ceroid lipofuscinosis (NCL) is an umbrella term referring to the most frequent
childhood-onset neurodegenerative diseases, which are also the main cause of childhood …

Mutations in CLN5 cause a subtype of neuronal ceroid lipofuscinosis (NCL) called CLN5
disease. The NCLs, commonly referred to as Batten disease, are a family of …

Mutations in the receptor expression-enhancing protein 1 gene (REEP1) are associated with
hereditary spastic paraplegia type 31 (SPG31), a neurological disorder characterized by …