Neuroacanthocytosis
The term neuroacanthocytosis is a collective term for an inhomogeneous group of neurological diseases that are characterized by a combination of acanthocytes , progressive dyskinesias and subcortical dementia .
Occurrence
The individual diseases are:
- Chorea acanthocytosis with mutation in the VPS13A gene on chromosome 9q21
- Huntington's Disease-like 2 with trinucleotide repeat expansion in the Junctophilin-3 gene on chromosome 16q24.3 (autosomal dominant; clinic: like Huntington's chorea )
- McLeod syndrome with a mutation in the gene for the XK transport protein on chromosome Xp21.1
- Acanthocytes can also be observed in neurodegeneration with iron deposition in the brain and in disorders of lipoprotein metabolism, such as familial abetalipoproteinemia ( Bassen-Kornzweig syndrome ).
Methodological aspects
The spike shape of the erythrocytes can escape the examiner with a simple blood smear. If the blood sample is mixed with 0.9% NaCl in a 1: 1 dilution before the examination, the spine shapes can be seen much more clearly.
Source
- ↑ RH Walker et al.: Neurologic phenotypes associated with acanthocytosis. In: Neurology. 2007 Jan 9; 68 (2), pp. 92-98. Review. PMID 17210889 .
- ↑ A. Danek, RH Walker: Neuroacanthocytosis. In: Current Opinion in Neurology 2005 Aug; 18 (4), pp. 386-392. Review. PMID 16003113 .
- ↑ Neuroacanthocytosis. In: Orphanet (Rare Disease Database).
- ↑ RH Walker et al .: Huntington's disease - like 2 can present as chorea-acanthocytosis. In: Neurology. 2003 Oct 14; 61 (7), pp. 1002-1004. PMID 14557581 .
- ^ F. Palau, C. Espinos: Autosomal recessive cerebellar ataxias. In: Orphanet J Rare Dis. 2006 Nov 17; 1, p. 47. PMID 17112370 .
- ↑ A. Storch, M. Kornhass, J. Schwarz: Testing for acanthocytosis A prospective reader-blinded study in movement disorder patients. In: J Neurol. 2005 Jan; 252 (1), pp. 84-90. PMID 15654559 .