Progress in the Diagnosis and Management of Chorea-acanthocytosis

Chin Med Sci J. 2018 Mar 30;33(1):53-59. doi: 10.24920/21802.

Abstract

Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis syndrome, characterized by the presence of acanthocytes and neurological disorders. It is thought to be caused by VPS13A mutations. Characteristic movement disorders in ChAc is choreiform movements affecting both trunk and extremities and prominent orolingual dyskinesia is pathognomonic. Acanthocytosis in peripheral blood smear, elevated serum creatine kinase and atrophy of heads of caudate nuclei and dilation of the anterior horn of the lateral ventricles in magnetic resonance imaging could assist the diagnosis of ChAc. Botulinum toxin injection is a possible treatment for the typical orofacial dystonia. Deep brain stimulation is a novel surgical treatment modality. Most cases chose globus pallidus internus as target. Patients with dystonia as a major manifestation will benefit more from high-frequency stimulation and those with major findings of chorea and dysarthria are suitable for low-frequency stimulation. More evidence of long-term outcomes is warranted.

Publication types

  • Review

MeSH terms

  • Abetalipoproteinemia / diagnosis*
  • Abetalipoproteinemia / metabolism*
  • Abetalipoproteinemia / therapy
  • Animals
  • Botulinum Toxins / therapeutic use*
  • Chorea / diagnosis*
  • Chorea / metabolism*
  • Chorea / therapy
  • Deep Brain Stimulation
  • Globus Pallidus / pathology
  • Humans
  • Vesicular Transport Proteins / metabolism

Substances

  • VPS13A protein, human
  • Vesicular Transport Proteins
  • Botulinum Toxins