Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Neurodegeneration with brain iron accumulation
Introduction
Overview
Overview
Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurological disorders in which iron accumulates in the basal ganglia, resulting in progressive dystonia, Parkinsonism, spasticity, optic atrophy or retinal degeneration and neuropsychiatric abnormalities. NBIA have been associated with genes in synapse and lipid metabolism related pathways.[1]
The group includes the following disorders:
- Pantothenate kinase-associated neurodegeneration (PKAN) also known as neurodegeneration with brain iron accumulation 1 (NBIA1)
- PLAN (PLA2G6-associated neurodegeneration)
- MPAN (Mitochondrial membrane protein-associated neurodegeneration)
- BPAN (Beta-propeller protein-associated neurodegeneration)
- FAHN (Fatty acid hydroxylase-associated neurodegeneration)
- Kufor–Rakeb syndrome
- Neuroferritinopathy
- Aceruloplasminemia
- Woodhouse–Sakati syndrome
- CoPAN (CoA synthase protein-associated neurodegeneration)
- Idiopathic NBIA
- Neurodegeneration with brain iron accumulation 2B (NBIA2B)
- Neurodegeneration with brain iron accumulation 3 (NBIA3)
References
References
- ↑ Bettencourt, C; Forabosco, P; Wiethoff, S; Heidari, M; Johnstone, DM; BotÃa, JA; Collingwood, JF; Hardy, J; Milward, EA; Ryten, M; Houlden, H; UK Brain Expression Consortium, (UKBEC) (17 December 2015). “Gene co-expression networks shed light into diseases of brain iron accumulation”. Neurobiology of disease. doi:10.1016/j.nbd.2015.12.004. PMID 26707700.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]