BPAN: Static encephalopathy of childhood with neurodegeneration in adulthood(SENDA)
Definitions
Group of neurologic disorders with progressive extrapyramidal symptoms, intellectual impairment, & excessive brain iron deposition in MR
IMAGING
General Features
Imaging Recommendations
CT Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Treatment
Selected References
Brezavar D et al: Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans. Mol Genet Metab. ePub, 2019
Christoforou S et al: Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient. Eur J Med Genet. 103765, 2019
Dusek P et al: Brain iron and metabolic abnormalities in C19orf12 mutation carriers: a 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration. Mov Disord. 128(4):463-9, 2019
Levi S et al: Iron pathophysiology in neurodegeneration with brain iron accumulation. Adv Exp Med Biol. 1173:153-77, 2019
Arber C et al: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation; unifying theories. Neuropathol Appl Neurobiol. 42(3):220-41, 2016
Amaral LL et al: Neurodegeneration with brain iron accumulation: clinicoradiological approach to diagnosis. J Neuroimaging. 25(4):539-51, 2015
Dusek P et al: Wilson disease and other neurodegenerations with metal accumulations. Neurol Clin. 33(1):175-204, 2015
Hogarth P: Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 8(1):1-13, 2015
Levi S et al: Neuroferritinopathy: from ferritin structure modification to pathogenetic mechanism. Neurobiol Dis. 81:134-43, 2015
Vroegindeweij LH et al: Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. J Inherit Metab Dis. 38(2):375-6, 2015
Gregory A et al: Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 46(2):73-80, 2009
Gregory A et al: Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology. 71(18):1402-9, 2008
Kurian MA et al: Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology. 70(18):1623-9, 2008
McNeill A et al: T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 70(18):1614-9, 2008
Hartig MB et al: Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol. 59(2):248-56, 2006
Hayflick SJ et al: Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol. 27(6):1230-3, 2006
Matarin MM et al: PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. Neurosci Lett. 407(2):162-5, 2006
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TERMINOLOGY
Abbreviations
Neurodegeneration with brain iron accumulation (NBIA)
BPAN: Static encephalopathy of childhood with neurodegeneration in adulthood(SENDA)
Definitions
Group of neurologic disorders with progressive extrapyramidal symptoms, intellectual impairment, & excessive brain iron deposition in MR
IMAGING
General Features
Imaging Recommendations
CT Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Treatment
Selected References
Brezavar D et al: Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans. Mol Genet Metab. ePub, 2019
Christoforou S et al: Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient. Eur J Med Genet. 103765, 2019
Dusek P et al: Brain iron and metabolic abnormalities in C19orf12 mutation carriers: a 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration. Mov Disord. 128(4):463-9, 2019
Levi S et al: Iron pathophysiology in neurodegeneration with brain iron accumulation. Adv Exp Med Biol. 1173:153-77, 2019
Arber C et al: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation; unifying theories. Neuropathol Appl Neurobiol. 42(3):220-41, 2016
Amaral LL et al: Neurodegeneration with brain iron accumulation: clinicoradiological approach to diagnosis. J Neuroimaging. 25(4):539-51, 2015
Dusek P et al: Wilson disease and other neurodegenerations with metal accumulations. Neurol Clin. 33(1):175-204, 2015
Hogarth P: Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 8(1):1-13, 2015
Levi S et al: Neuroferritinopathy: from ferritin structure modification to pathogenetic mechanism. Neurobiol Dis. 81:134-43, 2015
Vroegindeweij LH et al: Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. J Inherit Metab Dis. 38(2):375-6, 2015
Gregory A et al: Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 46(2):73-80, 2009
Gregory A et al: Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology. 71(18):1402-9, 2008
Kurian MA et al: Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology. 70(18):1623-9, 2008
McNeill A et al: T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 70(18):1614-9, 2008
Hartig MB et al: Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol. 59(2):248-56, 2006
Hayflick SJ et al: Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol. 27(6):1230-3, 2006
Matarin MM et al: PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. Neurosci Lett. 407(2):162-5, 2006
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