Neuroacanthocytosis

The term Neuroacanthocytosis is a collective term for a diverse group of neurological disorders that are characterized by the combination of acanthocytes, progressive dyskinesia and subcortical dementia.

Occurrence

Specifically, these are the following diseases:

• Autosomal recessive chorea - acanthocytosis with mutation in VPS13A gene ( gene: Chorein ) on chromosome 9q21 ( clinic: in the 2nd to 4th decade of life first orofacial dyskinesia and behavioral problems, then increasingly dystonic limbs and trunk involvement and distal polyneuropathy )
• Huntington 's Disease -like 2 with trinucleotide repeat expansion in the Junctophilin -3 gene on chromosome 16q24.3 (autosomal dominant; clinic: such as Huntington )
• McLeod syndrome on chromosome Xp21.1 ( X-linked with mutation in the XK - transport protein; Clinic: beginning with mental health problems, then chorea with orofacial involvement, possible involvement of cardiac and skeletal muscles from age 30; laboratory: creatine kinase increased, Kell blood group antigens expressed only weakly )
• Acanthocytes can also be observed in neurodegeneration with brain iron accumulation and in disorders of lipoprotein metabolism, such as familial abetalipoproteinemia ( Bassen - Kornzweig syndrome).

Methodological aspects

The sting shape of the red blood cells can escape the examiner with a simple blood smear. When the blood sample prior to testing with NaCl 0.9% is added in a 1:1 dilution of the spiked forms are much more clearly seen.

Source

• Disease in neurology
• Genetic disorder