Neuronal ceroid lipofuscinosis pdf
Neuronal ceroid lipofuscinosis (NCL) is an inherited, neurodegenerative disorder with fatal outcome in humans. It has also been described in some animal species; this is the first report of NCL in equines. Neuronal ceroid lipofuscinosis Infantile form. Nonsense and frameshift mutations in the CLN1 gene (located at 1p32   ) Late infantile form. On April 27, , the U.S. Juvenile form. All mutations resulting in the Juvenile variant of NCL have been shown to occur Adult dominant Specialty: Endocrinology. Sep 07, · Summary Summary. Listen. Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy.