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.

There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medications known as dopamine-receptor blocking drugs. Other antipsychotic medications as well as antidepressants and/or sedatives may also be used to treat some affected individuals. Seizures may be treated with anti-convulsants, which may also help to treat psychiatric symptoms. Anti-seizure medications that can can worsen involuntary movements are generally avoided. Dystonia has been treated with botulinum toxin to relax the muscles and reduce spasms. Because of feeding difficulties in some cases, individuals may need to have their nutrition monitored. Nutritional support, supplementation and/or a feeding tube may be necessary in some cases. Additional therapies that may be used to treat affected individuals may include speech therapy, physical therapy and occupational therapy. Mechanical devices, such as braces or a wheelchair, may benefit some people. Computer-assisted speech devices may be necessary in some cases.