neuronal ceroid lipofuscinosis 6A

A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 g

A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23.

Signs and symptoms

• Motor deterioration
• Abnormal nervous system electrophysiology
• Progressive visual loss
• Seizure
• Increased neuronal autofluorescent lipopigment
• Retinal degeneration
• Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
• Curvilinear intracellular accumulation of autofluorescent lipopigment storage material

Also known as: CLN6; neuronal ceroid lipofuscinosis 6; neuronal ceroid lipofuscinosis 6 variable age of onset