neurodegeneration with brain iron accumulation 2B

Pathology

• neurodegenerative disorder
• iron accumulation in brain, primarily in the basal ganglia

Genetics

• associated with defects in PLA2G6

Clinical manifestations

• progressive extrapyramidal dysfunction
• rigidity
• dystonia
• dysarthria
• sensorimotor impairment

Radiology

• magnetic resonance imaging: iron in basal ganglia

More general terms

• neurodegeneration with brain iron accumulation

Database

• OMIM: https://mirror.omim.org/entry/610217