neuronal ceroid lipofuscinosis 6B

A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_i

A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23.

Signs and symptoms

• Mental deterioration
• Dementia
• Ataxia
• Bilateral tonic-clonic seizure
• Myoclonus
• Cerebral atrophy
• Visual hallucination
• Leukoencephalopathy
• Increased neuronal autofluorescent lipopigment
• Abnormality of extrapyramidal motor function

Also known as: CLN4A; autosomal recessive neuronal ceroid lipofuscinosis 4A; neuronal ceroid lipofuscinosis 4A