Neuroacanthocytosis

What is neuroacanthocytosis?

Neuroacanthocytosis refers to a group of genetic conditions that are characterized by movement disorders and acanthocytosis (abnormal, spiculated or star-shaped red blood cells).

Four syndromes are classified as neuroacanthocytosis:

  1. Chorea-acanthocytosis
  2. McLeod syndrome
  3. Huntington's disease-like 2 (HDL2)
  4. Panthothenate kinase-associated neurodegeneration (PKAN)

These disorders are caused by different genetic mutations (defects). Acanthocytosis may not always be observed in HDL2 and PKAN. The signs and symptoms vary and may include:

  • Chorea (involuntary, dance-like movements)
  • Parkinsonism (slowness of movement)
  • Dystonia (abnormal body postures)
  • Problems walking
  • Muscle weakness
  • Involuntary movements of the face and tongue
  • Tongue/lip biting (which is mostly characteristic of chorea-acanthocytosis)
  • Difficulty with speech and eating
  • ​​​​​Cognitive impairment
  • Psychiatric symptoms
  • Seizures

Individuals with McLeod syndrome often have cardiac problems. Many features of these disorders are due to degeneration of the basal ganglia, a part of the brain that controls movement.

Neuroacanthocytosis typically is diagnosed based on symptoms and clinical observation, review of family history, and evaluation of specific laboratory and imaging studies.

There are currently no treatments to prevent or slow the progression of neuroacanthocytosis. Treatment is symptomatic and supportive. Medications may be prescribed to decrease the involuntary movements. Botulinum toxin injections usually improve symptoms of dystonia. A feeding tube may be needed for individuals with feeding difficulties. Seizures may be treated with a variety of anticonvulsants, and antidepressants may also be appropriate for some individuals. Speech, occupational, and physical therapy may also be beneficial.

Neuroacanthocytosis is a progressive disease, and in some cases may be complicated by poor nutritional status, cardiac abnormalities, and pneumonia.

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Learn About Clinical Trials
Clinical trials are studies that allow us to learn more about disorders and improve care. They can help connect patients with new and upcoming treatment options.

How can I or my loved one help improve care for people with neuroacanthocytosis?

Consider participating in a clinical trial so clinicians and scientists can learn more about neuroacanthocytosis and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with neuroacanthocytosis at Clinicaltrials.gov.

Where can I find more information about neuroacanthocytosis?

Information may be available from the following resources:

Genetic and Rare Diseases (GARD) Information Center

MedlinePlus

National Organization for Rare Disorders (NORD)