About acanthocytosis-neurologic disorder

What is acanthocytosis-neurologic disorder?

Neuroacanthocytosis is a general term for a group of rare progressive disorders characterized by the association of misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. Chorea, which is characterized by rapid, involuntary, purposeless movements, especially of the face, feet and hands, is the most common movement disorder associated with neuroacanthocytosis. Additional symptoms often develop including progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. The onset, severity and specific physical findings vary depending upon the specific type of neuroacanthocytosis present. Neuroacanthocytosis syndromes typically progress to cause serious, disabling and sometimes life-threatening complications (and are usually fatal). These disorders are inherited although the mode of transmission can vary. There is disagreement in the medical literature about what disorders should be classified as forms of neuroacanthocytosis. Four distinct disorders are usually classified as the "core" neuroacanthocytosis syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN). Some medical sources also include abetalipoproteinemia and hypobetalipoproteinemia types I and II as forms of neuroacanthocytosis.

What are the symptoms for acanthocytosis-neurologic disorder?

The changes Acanthocytosis makes to your red blood cells make them more likely to get trapped in your spleen and be destroyed. It can lead to a condition called spur cell hemolytic anemia. 

The symptoms can of hemolytic Anemia include:

  • Pale stools
  • Ongoing diarrhea
  • Loss of appetite
  • Throwing up
  • Slow growth and weight gain
  • Jaundice, or yellowing skin and eyes
  • Stomach pain
  • Dark urine
  • Pale skin

Acanthocytosis may be linked to other conditions. That means the general symptoms can be different. Neuroacanthocytosis illnesses cause similar symptoms like:

  • Jerky, involuntary movements
  • Muscle spasms
  • Uneven gait
  • Trouble walking
  • Seizures
  • Memory loss
  • Confusion
  • Trouble speaking
  • Irritability
  • Depression
  • Obsessive-compulsive disorder

What are the causes for acanthocytosis-neurologic disorder?

The exact reason why red blood cells change into abnormal shapes is not fully understood. The changes can be caused by inherited conditions or acquired diseases.

Blood cells have a layer called a membrane which has fats and proteins. Acanthocytes have an abnormal amount of these fats, or lipids, in odd proportions. That means the inner and outer surface areas of the blood cells are imbalanced. This causes them to harden, pucker, and form spikes.

What are the treatments for acanthocytosis-neurologic disorder?

Treatment for acanthocytosis depends on the cause. Treating the underlying condition can help treat acanthocytosis.

If you have anorexia or severe malnutrition, you can reverse acanthocytosis by treating the nutrition and eating disorder. If it’s caused by medication, stopping and changing the medication can also reverse acanthocytosis.

If you get hemolytic anemia from severe liver disease, your doctor might recommend:

  • Blood transfusion
  • Plasmapheresis
  • A shunt that bypasses your liver called a TIPS
  • Liver transplant

A blood transfusion doesn’t always work. The red blood cells in the donor blood can change into acanthocytes after they enter your body. Your doctor might suggest a liver transplant in such cases.

People who have abetalipoproteinemia will need to supplement their diet with vitamins A, D, E, K in large amounts to manage their symptoms. You might need to eat a low-fat diet and limit the fats and oils you eat.

There is no cure for neuroacanthocytosis conditions. Treatment involves managing symptoms with different medications or therapies. These can be:

  • Anti-seizure medications
  • Antidepressants
  • Sedatives
  • Botox for muscle spasms
  • Speech therapy
  • Occupational therapy
  • Physical therapy

What are the risk factors for acanthocytosis-neurologic disorder?

Chorea-acanthocytosis most often affects individuals between the ages of 20 and 40, although in rare cases, it can develop in individuals younger than 20 and older than 50. McLeod syndrome typically develops in males between the ages of 40-60. PKAN most often affects children under the age of 10, although in atypical cases onset is often after the age of 20. The age of onset of Huntington’s disease-like 2 is variable. The disorder has been reported only in a few families, all of whom are of African descent. Chorea-acanthocytosis, PKAN and Huntington’s disease-like 2 affect males and females in equal numbers. McLeod syndrome predominantly affects males, although in rare cases females have developed some symptoms of the disorder.

The exact incidence of neuroacanthocytosis is unknown. These disorders may go misdiagnosed or undiagnosed making it difficult to determine their true frequency in the general population.

Is there a cure/medications for acanthocytosis-neurologic disorder?

Certain antipsychotic medications known as dopamine-receptor blocking drugs may be used to treat both psychiatric symptoms and chorea associated with neuroacanthocytosis. These drugs include haloperidol, tiapride, clozapine, quetiapine and tetrabenazine. Dopamine is a neurotransmitter, a chemical that modifies, amplifies or transmits nerve impulses from one nerve cell (neuron) to another, enabling nerve cells to communicate. Dopamine is critical for the proper function of certain processes of the brain especially those that control movement.

Additional antipsychotic medications as well as antidepressants and sedatives may be used to treat some individuals with neuroacanthocytosis. Psychiatric symptoms are treated with conventional therapies as symptoms become apparent.

Anti-seizure medications (anti-convulsants) such as phenytoin, clobazam, valproate and levetiracetam may be used to treat the seizures sometimes associated with neuroacanthocytosis. Anti-seizure medications can also be of benefit in treating psychiatric symptoms. Certain anti-seizure medications such as carbamazepine and lamotrigine can worsen involuntary movements and should be avoided.

Botulinum toxin has been used to treat dystonia associated with neuroacanthocytosis. The botulinum toxin is injected directly into the muscle(s) to relax the muscle and reduce or eliminate spasms. The therapeutic effects of the injections may not become obvious before five to 10 days. Injections with botulinum toxin may be very helpful in relieving dystonic muscle spasms. Injections usually need to be repeated after three to four months when symptoms return.

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