Neuronal Ceroid-Lipofuscinosis (CLN5-Related) (CLN5)
Neuronal ceroid-lipofuscinosis (CLN5-related) is an autosomal recessive neurodegenerative disorder that is caused by pathogenic variants in the gene CLN5. 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 CLN5-caused neuronal ceroid-lipofuscinosis results in the late infantile form, in which symptoms begin between 4 and 7 years of age. Clinical features include progressive visual loss and neurologic symptoms, including seizures, ataxia, developmental and motor regression and intellectual disability. Affected individuals do not survive beyond adolescence or young adulthood. 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||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Neuronal Ceroid-Lipofuscinosis (CLN5-Related)||CLN5||1-4  (*8)||AR||Worldwide||< 1 in 500||73%||0.000540832882639265|
|Neuronal Ceroid-Lipofuscinosis (CLN5-Related)||CLN5||1-4  (*8)||AR||Finnish||1 in 100||>95%||0.000504795557799091|