Neurodegeneration with brain iron accumulation

Definition:

Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive extrapyramidal and cognitive disorders characterized by iron accumulation predominantly in the globus pallidus, as well as extensive axonal spheroids in various regions of the brain. The most frequent genetic form is the pantothenate kinase-2 associated neurodegeneration (PKAN) with a mutation in the pantothenate kinase 2 (PANK2) gene. Other forms are associated with a mutation in phospholipase A2 (PLA2G6), and FTL (neuroferritinopathy). A significant proportion of children with an NBIA phenotype have no genetic diagnosis and there are additional as yet undiscovered genes that account for a number of these cases.

References:

[1]. Andrzej Friedman, et al. Ferritin as an important player in neurodegeneration. Parkinsonism Relat Disord. 2011 Jul;17(6):423-30. [Content Brief]

[2]. Anthony Drecourt, et al. Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. Am J Hum Genet. 2018 Feb 1;102(2):266-277. [Content Brief]

[3]. Mahesh Kamate, et al. 'Eye-of-the-tiger' sign and classic pantothenate kinase associated neurodegeneration. Indian J Pediatr. 2011 Jan;78(1):121-2. [Content Brief]

[4]. Manju A Kurian, et al. Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol. 2011 May;53(5):394-404. [Content Brief]

[5]. Michael C Kruer, et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol. 2010 Nov;68(5):611-8. [Content Brief]

[6]. Penelope Hogarth, et al. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology. 2013 Jan 15;80(3):268-75. [Content Brief]

[7]. R Vidal, et al. Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol. 2004 Apr;63(4):363-80. [Content Brief]

[8]. Sabrina Dusi, et al. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am J Hum Genet. 2014 Jan 2;94(1):11-22. [Content Brief]

[9]. Tobias B Haack, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet. 2012 Dec 7;91(6):1144-9. [Content Brief]

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