neurodegeneration with brain iron accumulation 2b

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.

Signs and symptoms

Hypertonia
Bradykinesia
Dysmetria
Dystonia
Seizure
Cerebellar atrophy
Gait ataxia
Neurofibrillary tangles
Neurodegeneration
Intention tremor

Also known as: NBIA2b; Neuroaxonal Dystrophy, Atypical; Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related