Peroxidative hemolysis of red blood cells from patients with abetalipoproteinemia (acanthocytosis).

Incubation Hemolysis and Red Cell Metabolism in Acanthocytosis.

The acanthocyte-echinocyte differential: The example of chorea-acanthocytosis.

Acanthocytes are a distinct structural (and functional) entity compared to echinocytes. The differential, however, is not always clear. A summary of morphologic characteristic to make a clear distinction is provided, using the blood of a rare neurologic disease with acanthocytic transformation of red blood cells.

Acanthocytosis as a predisposing factor for non-ketotic hyperglycaemia induced chorea-ballism.

BACKGROUND Episodic non-ketotic hyperglycaemia in patients with diabetes may be responsible for a syndrome characterised by hemichorea-hemiballism associated with unique radiological features. OBJECTIVE To investigate whether factors other than hyperglycaemia may be responsible for the neurological involvement. METHODS Three patients who developed a persistent chorea-ballism syndrome trigge...

Neuroacanthocytosis Syndromes

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis...

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). Pantothenate kinases catalyze the rate-limiting step of coenzyme A synthesis and Pank2 is the only pantothenate kinase isoform in humans that is localized to mitochondria. Acanthocytosis, the occurrence of...