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    Early Neuroimaging Markers in β Propeller Protein-Associated Neurodegeneration | American Journal of Neuroradiology  
    

















    





























    
  
  




    
    

  

      


    

      

  
  
  

    

  

    

  

                
    

      

  

    

  
      
  
  

    


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Article CommentaryCOMMENTARY

  
      

  
      
Early Neuroimaging Markers in β Propeller Protein-Associated Neurodegeneration
  
    	
L. Chiapparini and G. Zorzi

  
    	
American Journal of Neuroradiology November 2022,  DOI: https://doi.org/10.3174/ajnr.A7723 

  
  
  



  


  
  



			

		

	
	
 	
	  
  

		
		

			

			  

  
      
  
  

    
  


  
  



  
      
  
  

    

  

    

  
      
  
  

    
References
  1. 1.↵
    1. Hogarth  P
    . Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord 2015;8:1–13 doi:10.14802/jmd.14034 pmid:25614780
    CrossRefPubMed
  2. 2.↵
    1. Wilson  JL, 
    2. Gregory  A, 
    3. Kurian  MA, et al
    ; BPAN Guideline Contributing Author Group. Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration. Dev Med Child Neurol;2021;63:1402–09 doi:10.1111/dmcn.14980 pmid:34347296
    CrossRefPubMed
  3. 3.↵
    1. Saitsu  H, 
    2. Nishimura  T, 
    3. Muramatsu  K, et al
    . De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013;45:445–49, 449e1 doi:10.1038/ng.2562 pmid:23435086
    CrossRefPubMed
  4. 4.↵
    1. Hong Huan Hor  C, 
    2. Luen Tang  B
    . Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy. Rev Neurosci 2019;30:261–77 doi:10.1515/revneuro-2018-0045 pmid:30204590
    CrossRefPubMed
  5. 5.↵
    1. Hayflick  SJ, 
    2. Kruer  MC, 
    3. Gregory  A, et al
    . Beta-propeller protein-associated neurodegenration: a new X-linked dominant disorder with brain iron accumulation. Brain 2013;136:1708–17 doi:10.1093/brain/awt095 pmid:23687123
    CrossRefPubMed
  6. 6.↵
    1. Adang  LA, 
    2. Pizzino  A, 
    3. Malhotra  A, et al
    . Phenotypic and imaging spectrum associated with WDR45. Pediatr Neurol 2020;109:56–62 doi:10.1016/j.pediatrneurol.2020.03.005 pmid:32387008
    CrossRefPubMed
  7. 7.↵
    1. Chen  H, 
    2. Qian  Y, 
    3. Yu  S, et al
    . Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants. Eur J Med Genet 2019;62:149–60 doi:10.1016/j.ejmg.2018.07.002 pmid:29981852
    CrossRefPubMed
  8. 8.↵
    1. Kano  K, 
    2. Yamanaka  G, 
    3. Muramatsu  K, et al
    . Beta-propeller protein-associated neurodegeneration presenting Rett-like features: a case report and literature review. Am J Med Genet A 2021;185:579–83 doi:10.1002/ajmg.a.61993 pmid:33251766
    CrossRefPubMed
  9. 9.↵
    1. Kruer  MC, 
    2. Boddaert  N, 
    3. Schneider  SA, et al
    . Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol 2012;33:407–14 doi:10.3174/ajnr.A2677 pmid:21920862
    Abstract/FREE Full Text
  10. 10.↵
    1. Ichinose  Y, 
    2. Miwa  M, 
    3. Onohara  A, et al
    . Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). Neurol Clin Pract 2014;4:175–77 doi:10.1212/01.CPJ.0000437694.17888.9b pmid:24790802
    Abstract/FREE Full Text
  11. 11.↵
    1. Rathore  GS, 
    2. Schaaf  CP, 
    3. Stocco  AJ
    . Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. Mov Disord 2014;29:574–75 doi:10.1002/mds.25868 pmid:24610255
    CrossRefPubMed
  12. 12.↵
    1. Papandreou  A, 
    2. Soo  A, 
    3. Spaull  R, et al
    . Expanding the spectrum of early neuroradiological findings in β propeller protein-associated neurodegeneration. AJNR Am J Neuroradiol 2022 Nov 3 [Epub ahead of print] doi:10.3174/ajnr.A7693 pmid:36328404
    Abstract/FREE Full Text
  13. 13.↵
    1. Chard  M, 
    2. Appendino  JP, 
    3. Bello-Espinosa  LE, et al
    . Single-center experience with beta-propeller protein-associated neurodegeneration (BPAN): expanding the phenotypic spectrum. Mol Genet Metab Rep 2019;20:100483 doi:10.1016/j.ymgmr.2019.100483 pmid:31293896
    CrossRefPubMed
  14. 14.↵
    1. Kimura  Y, 
    2. Sato  N, 
    3. Ishiyama  A, et al
    . Serial MRI alterations of pediatric patients with beta-propeller protein associated neurodegeneration (BPAN). J Neuroradiol 2021;48:88–93 doi:10.1016/j.neurad.2020.04.002 pmid:32335071
    CrossRefPubMed
  15. 15.↵
    1. Russo  C, 
    2. Ardissone  A, 
    3. Freri  E, et al
    . Substantia nigra swelling and dentate nucleus T2 hyperintensity may be early magnetic resonance imaging signs of β-propeller protein-associated neurodegeneration. Mov Disord Clin Pract 2019;6:51–56 doi:10.1002/mdc3.12693 pmid:30746416
    CrossRefPubMed
  16. 16.↵
    1. Christoforou  S, 
    2. Christodoulou  K, 
    3. Anastasiadou  V, 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 2020;63:103765 doi:10.1016/j.ejmg.2019.103765 pmid:31536831
    CrossRefPubMed
  17. 17.↵
    1. Maroofian  R, 
    2. Gubas  A, 
    3. Kaiyrzhanov  R, et al
    . Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course. Brain Commun 2021;3:fcab183 doi:10.1093/braincomms/fcab183 pmid:34557665
    CrossRefPubMed
  18. 18.↵
    1. Liu  Z, 
    2. Shen  H, 
    3. Lian  T, et al
    . Iron deposition in substantia nigra: abnormal iron metabolism, neuroinflammatory mechanism and clinical relevance. Sci Rep 2017;7:1–7 doi:10.1038/s41598-016-0028-x
    CrossRefPubMed
  19. 19.↵
    1. Thomsen  MS, 
    2. Andersen  MV, 
    3. Christoffersen  PR, et al
    . Neurodegeneration with inflammation is accompanied by accumulation of iron and ferritin in microglia and neurons. Neurobiol Dis 2015;81:108–18 doi:10.1016/j.nbd.2015.03.013 pmid:25801802
    CrossRefPubMed
  20. 20.↵
    1. Bodea  L, 
    2. Wang  Y, 
    3. Linnartz-Gerlach  B, et al
    . Neurodegeneration by activation of the microglial complement: phagosome pathway. J Neurosci 2014;34:8546–56 doi:10.1523/JNEUROSCI.5002-13.2014 pmid:24948809
    Abstract/FREE Full Text
  21. 21.↵
    1. Ward  RJ, 
    2. Zucca  FA, 
    3. Duyn  JH, et al
    . The role of iron in brain ageing and neurodegenerative disorders. Lancet Neurol 2014;13:1045–60 doi:10.1016/S1474-4422(14)70117-6 pmid:25231526
    CrossRefPubMed
  


  
  



  




  


  
  



  
      
  
  

    
  


  
  



  
      
  
  

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Early Neuroimaging Markers in β Propeller Protein-Associated Neurodegeneration
  
    	
L. Chiapparini, G. Zorzi

  
    	
American Journal of Neuroradiology Nov 2022, DOI: 10.3174/ajnr.A7723 

  
  
  



  


  
  



  
      
  
  

    

  
    
  
  
    
  
  
    
  


  


  
  



  
      
  
  

    
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