neuronal ceroid lipofuscinosis 5

A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous

A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.

Signs and symptoms

• Cerebellar atrophy
• Cerebral cortical atrophy
• Seizure
• Limb tremor
• Progressive visual loss
• Loss of ambulation
• Myoclonus
• Abnormal nervous system electrophysiology
• Ataxia
• Fingerprint intracellular accumulation of autofluorescent lipopigment storage material

Also known as: CLN5; neuronal ceroid lipofuscinosis 5 variable age of onset