Neuronal ceroid lipofuscinosis

Neuronal Ceroid Lipofuscinosis (pronunciation: n(y)o͝orˈōn(ə)l ˈseroid ˌlipōˈfəskəˌnōsəs) is a group of rare, inherited, neurodegenerative disorders that affect both humans and animals. These disorders are characterized by the excessive accumulation of lipopigments (lipofuscin) in the body's tissues. Lipopigments are made up of fats and proteins and their build-up is due to defects in a variety of genes.

Etymology

The term "Neuronal Ceroid Lipofuscinosis" is derived from the Greek words "neuron" (nerve), "ceroid" (wax-like), and "lipofuscin" (fat pigment).

Types

There are several types of Neuronal Ceroid Lipofuscinosis, each caused by mutations in different genes. These include:

• Infantile Neuronal Ceroid Lipofuscinosis (INCL)
• Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL)
• Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)
• Adult Neuronal Ceroid Lipofuscinosis (ANCL)

Symptoms

Common symptoms of Neuronal Ceroid Lipofuscinosis include:

• Seizures
• Visual impairment
• Motor function loss
• Cognitive decline

Diagnosis

Diagnosis of Neuronal Ceroid Lipofuscinosis is typically made through a combination of clinical examination, genetic testing, and tissue biopsy.

Treatment

There is currently no cure for Neuronal Ceroid Lipofuscinosis. Treatment is supportive and aims to manage symptoms and improve quality of life.

See Also

• Batten Disease
• Neurodegenerative Disorders
• Genetic Disorders

External links

• Medical encyclopedia article on Neuronal ceroid lipofuscinosis
• Wikipedia's article - Neuronal ceroid lipofuscinosis

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