What is infantile neuronal ceroid lipofuscinosis?
What is infantile neuronal ceroid lipofuscinosis?
Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.
What is Lipofuscinosis Ceroid?
Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments (lipofuscin) in the body’s tissues. These lipopigments are made up of fats and proteins.
What is NCL medical?
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 .
How common is neuronal ceroid lipofuscinosis?
Adult neuronal ceroid lipofuscinoses are extremely rare disorders. The prevalence is estimated to be about 1.5 people per 9,000,000 in the general population. Prevalence is the total numbers of individuals with a disease at a given time.
What is infantile Batten disease?
Infantile Batten is a subtype of Batten disease, a progressive and inherited disorder of the nervous system that’s also known as neuronal ceroid lipofuscinoses (NCL). Batten disease has several types, generally classified by the gene involved and the age at which symptoms start.
What is CLN2 disease?
CLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia).
What causes neuronal ceroid lipofuscinosis?
NCL involves the buildup of an abnormal material called lipofuscin in the brain. NCL is thought to be caused by problems with the brain’s ability to remove and recycle proteins. Lipofuscinoses are inherited as autosomal recessive traits.
What is ceroid pigment?
Patches of brown pigment under the skin, increasing with age, believed to be due to accumulation of the products of oxidation of fatty acids and protein. From: ceroid pigment in A Dictionary of Food and Nutrition ยป
What is CLN1?
CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression).
What organelle is affected by Batten disease?
Batten disease is an inherited genetic disorder that appears to affect the function of tiny bodies within cells called lysosomes.
What is TPP1?
Normal Function The TPP1 gene provides instructions for making an enzyme called tripeptidyl peptidase 1. This enzyme is produced as an inactive enzyme, called a proenzyme, which has an extra segment attached.
What is Batten Disease?
Batten disease is a group of fatal genetic disorders. There are 13 types. The disorder affects the body’s ability to get rid of cellular waste (lipids and proteins), so they build up in cells all over the body. The buildup causes seizures, vision loss, problems with thinking and movement, and eventually, death.
