Aceruloplasminaemia

Genetics and pathology

• This is caused by mutations in the Ceruloplasmin (Cp) gene on chromosome 3q
• The transmission is autosomal recessive
• The average onset age 51 years
• The mutation causes absent or dysfunctional ceruloplasmin
• This results in iron accumulation in organs
• There is also neuronal loss in the striatum, dentate nucleus, and thalamus

References

1. Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord 2012; 27:42-53.
2. Grisoli M, Piperno A, Chiapparini L, Mariani R, Savoiardo M. MR imaging of cerebral cortical involvement in aceruloplasminemia. Am J Neuroradiol 2005; 26:657-661.
3. Roberti Mdo R, Borges Filho HM, Gonçalves CH, Lima FL. Aceruloplasminemia: a rare disease - diagnosis and treatment of two cases. Rev Bras Hematol Hemoter 2011; 33:389-392.
4. Matsushima A, Yoshida T, Yoshida K, Ohara S, Toyoshima Y, Kakita A, Ikeda S. Superficial siderosis associated with aceruloplasminemia. Case report. J Neurol Sci 2014; 339:231-234.
5. Miyajima H, Fujimoto M, Kohno S, Kaneko E, Gitlin JD. CSF abnormalities in patients with aceruloplasminemia. Neurology 1998; 51:1188-1190.
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Related checklists

• Neurodegeneration with brain iron accumulation (NBIA): classification
• Pantethonate kinase associated neurodegeneration (PKAN)
• Neuroferritinopathy
• Woodhouse-Sakati syndrome
• Mitochondrial membrane protein-associated neurodegeneration (MPAN)
• Pallido-pyramidal syndromes (PPS)