Neurodegeneration with brain iron accumulation (NBIA): classification
Evidence-based neurology checklist on neurodegeneration with brain iron accumulation (nbia): classification: Designated NBIA types NBIA1: Pantethonate kinase associated neurodegeneration (PKAN) NBIA2: PLA2G6-associated neurodegeneration (PLAN) NBIA3: Kufor-Rakeb disease NBIA4: Beta-propeller…
Designated NBIA types
- NBIA1: Pantethonate kinase associated neurodegeneration (PKAN)
- NBIA2: PLA2G6-associated neurodegeneration (PLAN)
- NBIA3: Kufor-Rakeb disease
- NBIA4: Beta-propeller protein-associated neurodegeneration (BPAN)
- NBIA5: SENDA
Other NBIA types
Acronym
References
- Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord 2012; 27:42-53.
- Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 2009; 46:73-80.
- Schottmann G, Stenzel W, Lützkendorf S, Schuelke M, Knierim E. A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. Clin Genet 2014; 85:290-292.
- Wynn DP, Pulst SM. A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration. Neurol Genet 2016; 3:e124.
- Kruer MC, Boddaert N, Schneider SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. Am J Neuroradiol 2012; 33:407-414.
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