Neuronal Ceroid-Lipofuscinosis (PPT1-Related) (PPT1)

Neuronal ceroid-lipofuscinosis (PPT1-related) is an autosomal recessive neurodegenerative disorder that is caused by pathogenic variants in the gene PPT1. While it is found in different ethnicities around the world, it is more prevalent in individuals of Finnish descent due to the presence of a founder mutation. Most PPT1-caused neuronal ceroid-lipofuscinosis results in the infantile form, in which symptoms begin in infancy. Clinical features include progressive visual loss with blindness by the age of 2 years and neurologic symptoms, including seizures, ataxia, progressive cerebral atrophy, and intellectual disability. Affected children do not survive beyond childhood. Rarely, patients may be diagnosed with a later-onset form. It is not currently possible to predict the age of disease onset based on the patients genotype.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Neuronal Ceroid-Lipofuscinosis (PPT1-Related) PPT11-8 [9] (*8)ARWorldwide1 in 36858%0.00114285714285714
Neuronal Ceroid-Lipofuscinosis (PPT1-Related) PPT11-8 [9] (*8)ARFinnish1 in 7094%0.000868809730668983