How common is CLN2?

Has an estimated incidence of ~0.5 per 100,000 live births. Most commonly presents as the late–infantile phenotype. Mutations in the CLN2/TPP1 gene, which is located on chromosome 11p15 [63], result in deficient lysosomal activity of tripeptidyl-peptidase 1 (TPP1)

What is the life expectancy of a child with Batten disease?

If a child develops symptoms around age 10, they may live until their early 20s. Younger children usually do not live more than five or six years after symptoms begin. The earlier symptoms appear, the shorter the lifespan. People with adult Batten disease usually have more mild symptoms.

What are the 13 types of Batten disease?

Types of Batten Disease

  • CLN1 disease. Infantile onset and others.
  • CLN2 Disease. Late-infantile.
  • CLN3 Disease. Juvenile.
  • CLN5 Disease. Variant Late Infantile.
  • CLN6 Disease. Variant late-infantile onset and adult onset.
  • CLN7 Disease. Variant late-infantile onset.
  • CLN8 Disease. EPMR and Late Infantile Variant.
  • CLN10 disease.

What are treatments for Batten disease?

The only treatment approved by the U.S. Food and Drug Administration to treat Batten disease is Brineura (cerliponase alfa), an enzyme replacement therapy designed to slow the loss of walking ability in children with a type of Batten disease called CLN2.

What does CLN2 stand for?

About CLN2 Disease CLN2 (late infantile neuronal ceroid lipofuscinosis type 2) disease is an ultra-rare and rapidly progressing pediatric brain disorder1 and one of the most common forms of neuronal ceroid lipofuscinosis, a group of inherited disorders collectively known as Batten disease.

What is the treatment for Batten disease?

What is CLN2?

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 Batten disease?

A genetic defect, typically inherited from both parents, causes Batten disease. More than 400 mutations have been identified in 14 different genes, referred to as CLN1 through CLN14. Mutations in each of these genes cause a distinct disease type, also named CLN1 through CLN14 disease.

Is Batten disease dementia?

Over time, affected children suffer cognitive impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and have dementia.