neuronal ceroid lipofuscinosis 2

A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.

Signs and symptoms

• Reduced tissue tripeptidyl peptidase 1 activity
• Undetectable electroretinogram
• Cerebral atrophy
• Delayed speech and language development
• Abnormal nervous system electrophysiology
• Developmental regression
• Seizure
• Increased extraneuronal autofluorescent lipopigment
• Increased neuronal autofluorescent lipopigment
• Ataxia

Also known as: CLN2; neuronal ceroid lipofuscinosis 2 variable age at onset