CLN1 disease is characterized by seizures, vision loss and intellectual disability. It is caused by impaired function of the palmitoyl-protein thioesterase 1 enzyme, which is responsible for removing a specific type of fatty acid from proteins, so they can be broken down.
CLN1 disease belongs to the as neuronal ceroid lipofuscinosis (NCL) family of inherited genetic diseases that affects the nervous system. NCLs are caused by the buildup of the lipofuscin pigment.
Take this test to find out if you are a genetic carrier of a PPT1 variant and are at risk of passing it to your children.
CLN1 disease is caused by genetic variation in the PPT1 gene. This gene gives instructions for the palmitoyl-protein thioesterase 1 (PPT1) enzyme involved in the breakdown of certain proteins. People with CLN1 disease produce a PPT1 enzyme with impaired function, leading to the buildup of partially broken down fats and proteins and cell damage.
CLN1 disease is inherited in an autosomal recessive pattern, which means two defective copies of the PPT1 gene must be inherited for symptoms to manifest.
This test detects three variants in the PPT1 gene which cause CLN1 disease.
These variants occur in 98% of CLN1 cases and carriers in people of Finnish descent and 59% of cases and carriers in those of Northern and Western European descent.
Understanding your carrier status for these variants will help you understand the risk of passing a variant to your children.
Affected infants are normal at birth and develop normally until symptoms start to appear (typically at around 18 months).
- Brain cells die over time resulting in brain atrophy and small head
- Hypotonia (decreased muscle tone)
- Intellectual and motor disability
- Muscle twitches/spasms
- Vision loss (and eventual blindness)
- Feeding difficulties as the symptoms get worse
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.