Aceruloplasminaemia
Evidence-based neurology checklist on 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…
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
Clinical features
Differential diagnosis
Blood tests
Magnetic resonance imaging (MRI) brain
Cerebrospinal fluid (CSF) analysis
Treatment
References
- 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.
- 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.
- 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.
- 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.
- 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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