Neuronal Ceroid-Lipofuscinosis (CLN6-Related) (CLN6)
Neuronal ceroid-lipofuscinosis (CLN6-related) is an autosomal recessive neurodegenerative disorder that is caused by pathogenic variants in the gene CLN6. It has been reported in patients from different ethnicities around the world. Most CLN6-caused neuronal ceroid-lipofuscinosis results in the late infantile form, in which symptoms begin between 5 and 7 years of age. Clinical features include progressive visual loss and neurologic symptoms, including seizures, developmental and motor regression and intellectual disability. Affected individuals do not survive beyond their mid-twenties. 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.
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