neurodegeneration with brain iron accumulation 2a

info · Genetic · ICD-10: G23.0

A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life.

Signs and symptoms

Cerebellar atrophy
Cerebral atrophy
Gliosis
Iron accumulation in brain
Decreased nerve conduction velocity
Ataxia
Optic atrophy
Hearing impairment
Seizure
Hypotonia

Also known as: INAD1; Infantile Neuroaxonal Dystrophy 1; NBIA2a; Neurodegeneration, Pla2g6-Associated; Seitelberger Disease