Nevrodegenerasjon med hjernejernopphopning
En gruppe sykdommer som omfatter PKAN (PANK2), PLAN (PLA2G6), MPAN (C19orf12), BPAN (WDR45), nevroferritinopati (FTL) og aseruloplasminemi (CP), med overveiende recessiv arv.
Hva en diagnose endrer
Symptombehandling ved dystoni og parkinsonisme, jernkelering ved aseruloplasminemi, og bærertesting for slektninger ved recessive former.
Også kjent som
NBIA
Inkluderer 20 beslektede undertyper ↓Skjul undertyper ↑
- 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
