neuronal ceroid lipofuscinosis 13

A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heteroz

A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13.

Signs and symptoms

• Mental deterioration
• Dementia
• Diffuse cerebral atrophy
• Bilateral tonic-clonic seizure
• Ataxia
• Dysarthria
• Tremor
• Cerebral cortical atrophy
• Seizure
• Primitive reflex

Also known as: CLN13; neuronal ceroid lipofuscinosis 13 Kufs type