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GeneReviews® [Internet].

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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GeneReviews by Title GeneReviews Advanced Search Help

Select item 14959461.

Neuroferritinopathy.

Chinnery PF. 2005 Apr 25 [Updated 2022 Oct 20].

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Select item 30126842.

Neurodegeneration with Brain Iron Accumulation Disorders Overview.

Gregory A, Hayflick S. 2013 Feb 28 [Updated 2019 Oct 21].

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Figure 1

a. Non-contrast brain CT showing symmetric low signal in the putamina
b. T₂-weighted MRI image showing cystic change involving the putamina and globus pallidi and with increased signal in the heads of the caudate nuclei [Crompton et al 2005]

Neuroferritinopathy.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 1.

NBIA Types
PKAN = pantothenate kinase-associated neurodegeneration
PLAN = PLA2G6-associated neurodegeneration
MPAN = mitochondrial membrane protein-associated neurodegeneration
BPAN = beta-propeller protein-associated neurodegeneration
Minor forms include those associated with pathogenic variants in ATP13A2, FA2H, FTL, CP, and DCAF17. Frequencies are based on 850 families worldwide collected over 25 years in a repository of neurodegeneration with brain iron accumulation.

Neurodegeneration with Brain Iron Accumulation Disorders Overview.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

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