Neuroacanthocytosis: management

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Neuroacanthocytosis: management. This shows T2 hyperintensities and atrophy of the caudate and putamen. Fully referenced neurology checklist.

Magnetic resonance imaging (MRI)

  • This shows T2 hyperintensities and atrophy of the caudate and putamen
  • There is cerebellar atrophy ocassionally
  • There is no significant cortical pathology

Blood tests

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Electromyography (EMG)

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Treatments

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References

  1. Katsube T, Shimono T, Ashikaga R, Hosono M, Kitagaki H, Murakami T. Demonstration of cerebellar atrophy in neuroacanthocytosis of 2 siblings. Am J Neuroradiol 2009; 30:386-388.
  2. Bader B, Walker RH, Vogel M, Prosiegel M, McIntodh J, Danek A. Tongue protrusion and feeding dystonia: a hallmark of chorea-acanthocytosis. Movement Disorders 2010; 25:127-129.
  3. Walker RH, Jung HH, Dobson-Stone C, et al. Neurologic phenotypes associated with acanthocytosis. Neurology 2007; 68:92-98.
  4. Danek A, Rubio JP, Rampoldi L, et al. McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 2001; 50:755-764.
  5. Hewer E, Danek A, Schoser BG, et al. McLeod myopathy revisited: more neurogenic and less benign. Brain 2007; 130:3285-3296.
  6. And 2 more. Subscribe to see the full list

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