A4 year-old boy, born of consanguineous parents, with a normal birth, and developmental
history. He was referred to our clinic with history of ataxia, and exhibited no signs of …

Background Neuronal ceroid lipofuscinosis (NCL) is a hereditary lysosomal storage disease
with progressive brain neurodegeneration. Mutations in ceroid lipofuscinosis neuronal …

Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive inherited
neurodegenerative disorders mainly affecting children, and at least 13 causative genes …

Neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative disorder which mostly
presents in early life and is associated with a premature death. Here, we report a 50-year …

Abstract Background Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent
childhood-onset neurodegenerative pathologies characterized by seizures, progressive …

Background: Neuronal Ceroid Lipofuscinosis (NCL) disorders, recognized as the primary
cause of childhood dementia globally, constitute a spectrum of genetic abnormalities. CLN8 …

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a very rare neurodegenerative
lysosomal storage disorder. Progression is rapid and irreversible, making early diagnosis …

A 31-year-old woman was referred to our outpatient clinic for frequent seizures that were
becoming more difficult to control. The patient had tonic-clonic seizure onset at the age of 27 …

Ceroid neuronal lipofuscinosis (CLN) is a rare group of autosomal recessive
neurodegenerative diseases that cause developmental delay and seizures. Herein, we …

Background Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid
lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases …