Neurodegeneration with brain iron accumulation 4

Neurodegeneration with brain iron accumulation 4

Definition

Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.

Also known as C19orf12 neurodegeneration with brain iron accumulation, mitochondrial Protein-associated neurodegeneration, MPAN, NBIA due to C19orf12 mutation, NBIA4, neurodegeneration with brain iron accumulation 4, neurodegeneration with brain iron accumulation caused by mutation in C19orf12, neurodegeneration with brain iron accumulation due to C19orf12 mutation, neurodegeneration with brain iron accumulation type 4 — per MONDO

Also identified as

Affected Organs

Organ Involvement Source
Central nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Central nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0