뇌철분축적을 동반한 신경변성
PKAN(PANK2), PLAN(PLA2G6), MPAN(C19orf12), BPAN(WDR45), 뉴로페리틴병(neuroferritinopathy, FTL), 아세룰로플라스민혈증(aceruloplasminemia, CP) 등을 포함하는 질환군이며, 대부분 열성 유전 양식을 따릅니다.
진단이 달라지는 점
근긴장이상증과 파킨슨증에 대한 증상 치료, 아세룰로플라스민혈증에 대한 철분 킬레이트 요법, 열성 유전형에서 가족의 보인자 검사를 제공합니다.
다른 명칭
NBIA
관련 하위 유형 20개 포함 ↓하위 유형 숨기기 ↑
- 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
