neuronal ceroid lipofuscinosis 11

A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GR

A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q.

Signs and symptoms

• Seizure
• Ataxia
• EEG with generalized polyspikes
• Optic atrophy
• Visual impairment
• Decreased circulating progranulin concentration
• Generalized myoclonic seizure
• Cerebellar atrophy
• Mental deterioration
• Retinal dystrophy

Also known as: CLN11