We reported a 25-year-old woman with chorea-acanthocytosis (ChAc), with typical features of lip- and tongue-biting, choreiform movements and increased levels of serum creatine phosphokinase. She presented with orthostatic hypotension, and on evaluation had a moderately decreased heart rate response to deep breathing and mildly abnormal QSART in the lower extremities. These results indicated that autonomic dysfunction in our patient was mainly due to a postganglionic lesion. Although a few previous reports have described autonomic dysfunction associated with ChAc and have indicated that impairments are primarily sympathetic, our case study suggests that there is also parasympathetic dysfunction. We hypothesize that ChAc, and possibly other neuroacanthocytosis syndromes, have post-ganglionic sympathetic neuropathy in the early stages, which results in denervation hypersensitivity to norepinephrine in heart muscle. This denervation hypersensitivity results in an increase in norepinephrine receptor density and affinity on cardiac muscle and these abnormalities may induce fatal arrhythmia.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
American Academy of Neurology (1995). Assessment: clinical autonomic testing report of the Therapeutics and Technology Assessment Subcommittee. Neurology 48:873–880.
Bellavere F et al. (1988) Prolonged QT period in diabetic autonomic neuropathy: a possible role in sudden cardiac death? Br Heart J 59:379–383.
Chambers JB et al. (1990) QT prolongation on the electrocardiogram in diabetic autonomic neuropathy Diabet Med 7:105–110.
Faillance RT, Kingston WJ, Nanda NC (1982) Cardiomyopathy associated with the syndrome of amyotrophic chorea and acanthocytosis Ann Intern Med 96:616–617.
Genovely H, Pfeifer MA (1988) RR-variation: the autonomic test of choice in diabetes Diabetic Metab Rev 4:255–271.
Gross K et al. (2006) Neuroacanthocytosis syndrome E-medicine Web MD: 1–16.
Harati Y, Low PA (1990) Autonomic peripheral neuropathies: diagnosis and clinical presentation Curr. Neurol 10:105–176.
Kihara M, Mitsui M, Nishikawa S, Nishimoto K, Takahashi M (1998) Comparison of electrophysiologic and autonomic tests in sensory diabetic neuropathy Clin Auton Res 8:213–220.
Kihara M, Nakashima H, Takahashi M, Kawamura Y (1998) A dysautonomia case of Guillain–Barre syndrome with recovery: monitored by composite autonomic scoring scale. J Auton Nerv Syst 73:186–189.
Kihara M, Takahashi M, Nishimoto K, Okuda K, Matsui T, Yamakawa T, Okumura A (1998) Autonomic dysfunction in elderly bedfast patients. Age Ageing 27:551–555.
Low PA (1993) Composite autonomic scoring scale for laboratory quantification of generalized autonomic failure. Mayo Clin Proc 68:748–752.
Low PA (ed) (1997). Laboratory evaluation of autonomic function. Clinical autonomic disorders, 2nd edn. Lippincott-Raven, Philadelphia, pp 179–208.
Sakai T, Mawatari S, Iwashita H, Goto I, Kuroiwa Y (1981) Choreoacanthocytosis. Clues to clinical diagnosis. Arch Neurol 38:335–338.
Sandroni P, Ahlskog JE, Fealey RD, Low PA (1991) Autonomic involvement in extrapyramidal and cerebellar disorders. Clin Auton Res 1:147–155.
Sandroni P, Benarroch EE, Low PA (1991) Pharmacological dissection of components of Valsalva maneuver in adrenergic failure. J Appl Physiol 71:1563–1567.
Senda Y, Koike Y, Sugimura K, Matsuoka Y, Takahashi A (1987) Chorea-acanthocytosis with catecholamine abnormality and orthostatic hypotension–a case report [Japanese]. Clin Neurol 27:898–903.
Shepherd RFJ, Shepherd JT (1988) Control of blood pressure and circulation in man. In: Banister R (ed) Autonomic failure, 2nd edn. Oxford University Press, Oxford, pp 80–96.
Sotaniemi KA (1983) Chorea-acanthocytosis. Neurological disease with acanthocytosis. Acta Neurol Scand 68:53–56.
Spitz MC, Jankovic J, Killian JM (1985) Familial tic disorder, Parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome. Neurology 35:366–370.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2008 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Kihara, M., Kawamura, Y., Schmelzer, J.D. (2008). Autonomic Dysfunction in Neuroacanthocytosis and Causes of Sudden Death: Analysis of a Case of Chorea-Acanthocytosis with Dysautonomia. In: Walker, R.H., Saiki, S., Danek, A. (eds) Neuroacanthocytosis Syndromes II. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-71693-8_20
Download citation
DOI: https://doi.org/10.1007/978-3-540-71693-8_20
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-71692-1
Online ISBN: 978-3-540-71693-8
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)