The neuronal ceroid-lipofuscinoses (NCLs) are a group of conditions that damage the nervous system because of a buildup of toxic fatty substances in the cells; this gets worse over time. NCL can be caused by variations in several genes and can vary in their severity and the age at which symptoms first appear.
People affected by PPT1-related NCLs usually have normal development for their first 18 months. After this time children affected by NCLs experience a loss of vision, difficulties with speech and movement and a gradual loss of previously acquired skills. Some individuals experience intellectual disability, behavioural problems, vision problems and seizures.
Treatment with enzyme replacement therapy may slow progression of the condition, but unfortunately, people with NCLs usually only live into early adulthood.
As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.
neuronal ceroid-lipofuscinosis (PPT1-related) is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.
If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the condition.
If both parents are carriers of neuronal ceroid-lipofuscinosis (PPT1-related), there's a one in four chance that their children could develop symptoms.
Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic condition in your child. Eugene offers an inclusive genetic carrier screening panel that includes neuronal ceroid-lipofuscinosis (PPT1-related), but there's a total 301 conditions that can be tested.
Eugene's carrier test is a clinical grade test that can be done from the comfort of your own home — it's just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.Learn more about carrier screening
The biggest benefit of screening for neuronal ceroid-lipofuscinosis (PPT1-related) is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic condition is low.
Since 90% of children that have a recessive genetic condition like neuronal ceroid-lipofuscinosis (PPT1-related) had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the condition in the first place.