Neuronal Ceroid Lipofuscinosis (PPT1-Related)

PPT1-related Neuronal Ceroid Lipofuscinosis (CLN1 disease), also known as Infantile NCL or Santavuori-Haltia disease, is the most severe and earliest-onset form of the Batten disease family. It is characterized by rapid neurodegeneration beginning in infancy, leading to blindness, seizures, loss of motor and cognitive function, and early death.

The classic infantile form presents between 6 months and 2 years of age in a child who was previously developing normally. Parents typically first notice developmental delay or regression, with loss of previously acquired skills. Vision deteriorates rapidly due to retinal degeneration, with complete blindness usually by age 2. Seizures, often myoclonic, begin early and become severe.

The disease is relentlessly progressive. Affected children lose the ability to walk, talk, and eventually swallow. Head growth slows and stops (microcephaly). By age 3-4, most children are in a vegetative state. Life expectancy in the classic infantile form is typically 8-13 years. Some PPT1 mutations cause later-onset, more slowly progressive forms of the disease.

CLN1 disease is caused by mutations in the PPT1 gene, which encodes the enzyme palmitoyl protein thioesterase 1. This enzyme is needed to remove fatty acid modifications from proteins in lysosomes. When it is deficient, these proteins accumulate as lipofuscin, damaging cells. The condition is inherited in an autosomal recessive pattern. Gene therapy trials are underway.

NutraHacker examines the following gene related to PPT1-Related Neuronal Ceroid Lipofuscinosis:

• PPT1

For more information about your own genetic profile as related to Neuronal Ceroid Lipofuscinosis, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.