neuronal ceroid lipofuscinosis 1

A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compo

A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.

Signs and symptoms

• Reduced tissue palmitoyl-protein thioesterase activity
• Vascular granular osmiophilic material deposition
• Psychomotor deterioration
• Seizure
• Flexion contracture
• Hypotonia
• Sleep disturbance
• Ataxia
• Generalized hypotonia
• Depression

Also known as: CLN1; neuronal ceroid lipofuscinosis 1 variable age of onset