How common is neuronal ceroid lipofuscinosis?
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 juvenile neuronal ceroid lipofuscinosis?
Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.
What is a metabolic disease in dogs?
In dogs, the metabolic syndrome is well recognized in experimental conditions, where the obesity is induced by excessive administration of fat rich diets. The syndrome is associated with the development of atherosclerotic disease, lipodystrophy, abnormal hematological and blood coagulation.
How is Niemann Pick Disease inherited?
The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for the child to be affected. Niemann-Pick is a progressive disease, and there is no cure.
Is Batten’s disease rare?
It is not known how many people have Batten disease, but by some estimates it can be as frequent as in 1 in 12,500 people in some populations. It affects an estimated 2 to 4 out of every 100,000 children in the United States.
Can Chihuahuas get degenerative myelopathy?
Affected dogs usually present in adulthood with gradual muscle Atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk.
What is neuronal ceroid lipofuscinosis?
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.
What is the role of cathepsins in the human brain?
Some of the cathepsins such as cathepsins B, H, L, C and O are ubiquitous and highly to moderately expressed in various tissues and cells including in the brain, suggesting that these enzymes play a role in general protein degradation and turnover.
What is the extracellular localization of cysteine cathepsins?
The extracellular localization of cysteine cathepsins is often linked with their increased expression and proteolytic activity.
Are all cathepsins expressed at the same levels in different tissues?
Although all the cathepsins are targeted to endolysomes via the mannose-6-phosphate receptor pathway, or, sometimes, via the mannose-6-phosphate receptor-independent pathway (s) ( Von Figura and Hasilik, 1986 ), they are not all expressed at the same levels in different tissues ( Rossi et al., 2004, Unanue et al., 2016 ).
