Skip to main content

Advertisement

Log in

Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea

  • Correspondence
  • Published:
Clinical Neuroradiology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  1. Texel SJ, Xu X, Harris ZL. Ceruloplasmin in neurodegenerative diseases. Biochem Soc Trans. 2008;36:1277–81.

    Article  CAS  PubMed  Google Scholar 

  2. Miyajima H. Aceruloplasminemia. Neuropathology. 2015;35:83–90.

    Article  CAS  PubMed  Google Scholar 

  3. Hogarth P. Neurodegeneration with brain iron accumulation: diagnosis and management. J Mov Disord. 2015;8:1–13.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Schneider SA. Neurodegenerations with brain iron accumulation. Parkinsonism Relat Disord. 2016;22(Suppl 1):S21–S25.

    Article  PubMed  Google Scholar 

  5. Daimon M, Kato T, Kawanami T, Tominaga M, Igarashi M, Yamatani K, Sasaki H. A nonsense mutation of the ceruloplasmin gene in hereditary ceruloplasmin deficiency with diabetes mellitus. Biochem Biophys Res Commun. 1995;217:89–95.

    Article  CAS  PubMed  Google Scholar 

  6. Batla A, Adams ME, Erro R, Ganos C, Balint B, Mencacci NE, Bhatia KP. Cortical pencil lining in neuroferritinopathy: a diagnostic clue. Neurology. 2015;84:1816–8.

    Article  PubMed  PubMed Central  Google Scholar 

  7. McNeill A, Birchall D, Hayflick SJ, Gregory A, Schenk JF, Zimmerman EA, Shang H, Miyajima H, Chinnery PF. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 2008;70:1614–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P. Beta-propeller protein-associated neurodegeneration: a new X‑linked dominant disorder with brain iron accumulation. Brain. 2013;136:1708–17.

    Article  PubMed  PubMed Central  Google Scholar 

  9. Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H. Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neurosci Lett. 2012;523:35–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Wolkow N, Song Y, Wu TD, Qian J, Guerquin-Kern JL, Dunaief JL. Aceruloplasminemia: retinal histopathologic manifestations and iron-mediated melanosome degradation. Arch Ophthalmol. 2011;129:1466–74.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to M. S. Lee.

Ethics declarations

Conflict of interest

H.K. Kim, C.S. KiM, Y.J. Kim and M.S. Lee declare that they have no competing interests.

Ethical standards

All studies on human described in this article were carried out the approval of the responsible ethics committee and in accordance with national law and the Helsinki Declaration from 1964 (in its current revised form). Informed consent was obtained from the patient included in the study.

Additional information

H.K. Kim and C.S. Ki contributed equally to manuscript writing, H.K. Kim: collection of clinical data, data analysis, manuscript writing, C.S. Ki: analysis of genetic data, manuscript writing, Y.J. Kim: analysis of genetic data, collection of clinical data, critical review of the manuscript and M.S. Lee: design of the study, acquisition and analysis of data, manuscript writing.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kim, H.K., Ki, C.S., Kim, Y.J. et al. Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea. Clin Neuroradiol 27, 385–388 (2017). https://doi.org/10.1007/s00062-017-0573-0

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00062-017-0573-0

Keywords

Navigation