Journal of Neurology

, Volume 260, Issue 1, pp 268–274 | Cite as

Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid

  • F. Ginanneschi
  • A. Mignarri
  • M. Mondelli
  • G. N. Gallus
  • M. Del Puppo
  • S. Giorgi
  • A. Federico
  • A. Rossi
  • M. T. Dotti
Original Communication


Polyneuropathy has been reported in cerebrotendinous xanthomatosis (CTX), although its nature and possible association with certain genotypes and phenotypes are unclear. The effect of chronic administration of chenodeoxycholic acid (CDCA) on peripheral nerve conduction parameters is still debated. We report clinical, laboratory, and electrophysiological findings in 35 CTX patients. Twenty-six subjects (74.2 %) showed peripheral nerve abnormalities. Polyneuropathy was predominantly axonal (76.9 % of patients) and generally mild. No correlation was found between its presence and clinical or biochemical data. In polyneuropathic patients, CDCA treatment improved electrophysiological conduction parameters, irrespective of the duration of therapy. Improvement mainly concerned nerve conduction velocities, whereas most nerve amplitudes remained unchanged. This means that CDCA treatment did not influence the number of axons activated by maximum electrical stimulation but increased the conduction of the still-excitable fibers. Our findings may suggest that CDCA treatment promotes myelin synthesis in nerve fibers with residual unaffected axons. The effect of therapy may therefore depend largely on the extent of irreversible structural damage to axons.


Cerebrotendinous xanthomatosis Neurophysiology Neuropathy 


Conflicts of interest

All the authors exclude actual or potential conflict of interest including any financial, personal, or other relationships with other people or organizations that could inappropriately influence, or be perceived to influence work.

Ethical standard

This study has been approved by the appropriate ethics committee and has therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.


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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • F. Ginanneschi
    • 5
  • A. Mignarri
    • 1
  • M. Mondelli
    • 2
  • G. N. Gallus
    • 1
  • M. Del Puppo
    • 3
  • S. Giorgi
    • 4
  • A. Federico
    • 1
  • A. Rossi
    • 5
  • M. T. Dotti
    • 1
  1. 1.Neurometabolic Unit, Department of Neurological, Neurosurgical and Behavioural SciencesUniversity of SienaSienaItaly
  2. 2.Servizio di EMG, ASL 7SienaItaly
  3. 3.Department of Experimental Medicine, Medical SchoolUniversity of Milano-BicoccaMilanoItaly
  4. 4.Unit of Farmacy, AOUSSienaItaly
  5. 5.Section of Neurology and Clinical Neurophysiology, Department of Neurological, Neurosurgical and Behavioural SciencesUniversity of SienaSienaItaly

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