neuronal ceroid lipofuscinosis 8

A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granu

A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.

Signs and symptoms

• Developmental regression
• Seizure
• Ataxia
• Progressive visual loss
• Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
• Loss of ambulation
• Myoclonus
• Cerebral atrophy
• Delayed speech and language development
• EEG abnormality

Also known as: CLN8