Skip to main content
Erschienen in: Clinical Neuroradiology 3/2017

01.09.2017 | Correspondence

Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea

verfasst von: H. K. Kim, C. S. Ki, Y. J. Kim, M. S. Lee

Erschienen in: Clinical Neuroradiology | Ausgabe 3/2017

Einloggen, um Zugang zu erhalten

Excerpt

The amount of intracellular free iron is strictly regulated by its binding to ferritin. Ceruloplasmin oxidizes a surplus of intracellular free iron into a ferric state and exports ferric iron from the cell. Thus, ceruloplasmin deficiency increases intracellular free iron that catalyzes the conversion of hydrogen peroxide to highly reactive hydroxyl radicals and may facilitate oxidative stress and neurodegeneration [1]. Ceruloplasmin is synthesized and secreted by hepatocytes, astrocytes, choroid plexus, and Sertoli cells. In patients with aceruloplasminemia, iron accumulates in the liver, pancreas, retina and brain [1]. Aceruloplasminemia presents with diabetes, retinopathy, cognitive impairment, and variable movement disorders; however, chorea is uncommon [2]. We described radiological findings of two sisters presenting with chorea due to aceruloplasminemia. …
Literatur
1.
Zurück zum Zitat Texel SJ, Xu X, Harris ZL. Ceruloplasmin in neurodegenerative diseases. Biochem Soc Trans. 2008;36:1277–81.CrossRefPubMed Texel SJ, Xu X, Harris ZL. Ceruloplasmin in neurodegenerative diseases. Biochem Soc Trans. 2008;36:1277–81.CrossRefPubMed
4.
Zurück zum Zitat Schneider SA. Neurodegenerations with brain iron accumulation. Parkinsonism Relat Disord. 2016;22(Suppl 1):S21–S25.CrossRefPubMed Schneider SA. Neurodegenerations with brain iron accumulation. Parkinsonism Relat Disord. 2016;22(Suppl 1):S21–S25.CrossRefPubMed
5.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
6.
Zurück zum Zitat 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
7.
Zurück zum Zitat 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
8.
Zurück zum Zitat 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
9.
Zurück zum Zitat 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
10.
Zurück zum Zitat 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.CrossRefPubMedPubMedCentral 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.CrossRefPubMedPubMedCentral
Metadaten
Titel
Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea
verfasst von
H. K. Kim
C. S. Ki
Y. J. Kim
M. S. Lee
Publikationsdatum
01.09.2017
Verlag
Springer Berlin Heidelberg
Erschienen in
Clinical Neuroradiology / Ausgabe 3/2017
Print ISSN: 1869-1439
Elektronische ISSN: 1869-1447
DOI
https://doi.org/10.1007/s00062-017-0573-0

Weitere Artikel der Ausgabe 3/2017

Clinical Neuroradiology 3/2017 Zur Ausgabe

Update Radiologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.