Neurodegeneration with Brain Iron Accumulation
A group of disorders including PKAN (PANK2), PLAN (PLA2G6), MPAN (C19orf12), BPAN (WDR45), neuroferritinopathy (FTL) and aceruloplasminemia (CP), with mostly recessive inheritance.
Co se diagnózou změní
Symptom treatment for dystonia and parkinsonism, iron chelation for aceruloplasminemia, and carrier testing for relatives in recessive forms.
Známé také jako
NBIA
Zahrnuje 20 příbuzných podtypů ↓Skrýt podtypy ↑
- aceruloplasminemia
- atypical pantothenate kinase-associated neurodegeneration
- autosomal recessive Parkinson disease 14
- classic pantothenate kinase-associated neurodegeneration
- early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- fatty acid hydroxylase-associated neurodegeneration
- Kufor-Rakeb syndrome
- neurodegeneration with brain iron accumulation 2A
- neurodegeneration with brain iron accumulation 2B
- neurodegeneration with brain iron accumulation 4
- neurodegeneration with brain iron accumulation 5
- neurodegeneration with brain iron accumulation 6
- neurodegeneration with brain iron accumulation 7
- neurodegeneration with brain iron accumulation 8
- neurodegeneration with brain iron accumulation 9
- neuroferritinopathy
- pantothenate kinase-associated neurodegeneration
- parkinsonism due to ATP13A2 deficiency
- PLA2G6-associated neurodegeneration
- Woodhouse-Sakati syndrome
