Neuroacanthocytosis

Neuroacanthocytosis
Classification and external resources
eMedicine	article/1150817
MeSH	D054546
[]

Neuroacanthocytosis is a label applied to several neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes.

The 'core' neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome. Acanthocytes are seen less frequently in other conditions including Huntington's disease-like syndrome 2 (HDL2) and pantothenate kinase-associated neurodegeneration (PKAN).

The neuroacanthocytosis syndromes are caused by a range of genetic mutations and produce a variety of clinical features but primarily produce neurodegeneration of the brain, specifically the basal ganglia.

The diseases are hereditary but rare.

The hallmark of the neuroacanthocytosis syndromes is the presence of acanthocytes in peripheral blood. Acanthocytosis originated from the Greek word acantha, meaning thorn. Acanthocytes are spiculated red blood cells and can be caused by altered distribution of membrane lipids or membrane protein/skeleton abnormalities. In neuroacanthocytosis, acanthocytes are caused by protein but not lipid membrane abnormalities

The 'core' neuroacanthocytosis syndromes are chorea acanthocytosis and McLeod syndrome. Acanthocytes are nearly always present in these conditions and they share common clinical features. Some of these features are also seen in the other neurological syndromes associated with neuroacanthocytosis.

A common feature of the core syndromes is chorea: involuntary dance-like movements. In neuroacanthocytosis, this is particularly prominent in the face and mouth which can cause difficulties with speech and eating. These movements are usually abrupt and irregular and present during both rest and sleep.

Individuals with neuroacanthocytosis also often suffer from parkinsonism, the uncontrolled slowness of movements, and dystonia, abnormal body postures. Many affected individuals also have cognitive (intellectual) impairment and psychiatric symptoms such as anxiety, paranoia, depression, obsessive behavior, and pronounced emotional instability. Seizures may also be a symptom of neuroacanthocytosis.

...
Wikipedia