pantothenate kinase-associated neurodegeneration

info · Genetic · ICD-10: G23.0

A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.

Signs and symptoms

Elevated circulating creatine kinase activity
Seizure
Elevated circulating alkaline phosphatase concentration
Incoordination
Chorea
Cerebral cortical atrophy
Eye of the tiger anomaly of globus pallidus
Gait disturbance
Dystonia
Dysarthria

Also known as: Hallervorden-Spatz disease; Hallervorden-Spatz syndrome; NBIA1; Pigmentary pallidal degeneration; brain Iron Accumulation type I syndrome