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  • Title: A case of chorea-acanthocytosis with dysautonomia; quantitative autonomic deficits using CASS.
    Author: Kihara M, Nakashima H, Taki M, Takahashi M, Kawamura Y.
    Journal: Auton Neurosci; 2002 Apr 18; 97(1):42-4. PubMed ID: 12036185.
    Abstract:
    The purpose of this study was to quantitatively assess cardiovagal, adrenergic and postganglionic sudomotor functions in a patient with chorea-acanthocytosis. We describe a 25-year-old woman with acanthocytosis, lip and tongue biting, chorea like movements and increased levels of serum creatine phosphokinase. The patient presented with orthostatic hypotension. The heart period response to deep breathing was moderately decreased and the quantitative sudomotor axon reflex test (QSART) was mildly abnormal in the lower extremities. The composite autonomic score (CASS) for this patient was 6 points which indicates moderate autonomic failure. Although a few previous reports have described autonomic dysfunction associated with chorea-acanthocytosis and have indicated that impairment is primarily sympathetic, our case study suggests that there is also parasympathetic dysfunction. We conclude that there is widespread autonomic involvement in choreaacanthocytosis and that autonomic studies are useful in monitoring their course.
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