The diagnosis of ChAc is based primarily on clinical findings, the
presence of characteristic MRI findings, and evidence of muscle disease.
CT and MRI reveal atrophy of the caudate nuclei with dilatation of the
anterior horns of the lateral ventricles. MRI commonly shows T2-weighted
signal increase in the caudate and putamen. Acanthocytes are present in
5%-50% of the red cell population. In some cases, acanthocytosis may be
absent or may appear only late in the course of the disease. Increased
serum concentration of muscle creatine kinase (CK) is observed in the
majority of affected individuals. Muscle biopsy reveals central nuclei and atrophic fibers.
Protein
function tests that demonstrate a reduce in chorein levels and also genetic
analysis can confirm the diagnosis.
Western blot analysis confirm the absence of chorein.
Acanthocytes in blood sample.
References
Online
'Mendelian Inheritance in Man' (OMIM) 200150
"Chorea
Acanthocytosis." Genetics Home Reference. Genetics Home Reference, May
2008. Web. 07 Feb. 2010.
Sokolov,
E., Schneider, S., Bain, P. (2011, August 2). Chorea-acanthocytosis. Retrieved
from http://pn.bmj.com/content/12/1/40.short .
Lo Coco,
D., Caruso, G., Mattaliano, Alfredo. (2009, May 13). Deep Brain Stimulation in
Chorea Acanthocytosis. Retrieved from http://journals1.scholarsportal.info.myaccess.library.utoronto.ca/tmp/5717586688821322584.pdf.
Raasch, S.,
Hadjikoutis, S. (2007, November). Neuromuscular involvement in
chorea-acanthocytosis. Retrieved from http://journals1.scholarsportal.info.myaccess.library.utoronto.ca/tmp/1950895113293153776.pdf.
Bader, B.,
Arzberger, T., Heinsen, H., Dobson-Stone, C., Kretzschmar, H.A., Danek, A.
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