2024年7月19日 · Neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, is the name for a group of rare inherited neurodegenerative disorders that most often begin in childhood. Batten disease affects people of all ages and ethnicities.

Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy.

2024年8月17日 · Neuronal ceroid lipofuscinoses (NCLs), or Batten disease, are a group of devastating and lethal neurodegenerative lysosomal storage diseases that typically affect children. The disease is known to have 14 forms, each resulting from mutations in a distinct gene.

Neuronal ceroid lipofuscinosis is a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments in the body's tissues. [1] These lipopigments are made up of fats and proteins.

2024年9月24日 · The neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal diseases characterized by progressive neurodegeneration and intracellular accumulation of autofluorescent lipopigment. This topic will review the NCLs.

The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited lysosomal storage disorders that share similar pathological and clinical features. They are characterized by accumulation of autofluorescent storage material within the lysosome and the death of neurons.