neuronal ceroid lipofuscinosis 4

A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNA

A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inheritance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene on chromosome 20q13.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Myoclonic seizure
• Depression
• Dementia
• Vascular granular osmiophilic material deposition
• Visual hallucination
• Parkinsonism
• Seizure
• Increased neuronal autofluorescent lipopigment
• Ataxia

Also known as: CLN4B disease; autosomal dominant neuronal ceroid lipofuscinosis 4B; neuronal ceroid lipofuscinosis 4 Parry type; neuronal ceroid lipofuscinosis 4B