Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid
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.
KeywordsCerebrotendinous 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.
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.
- 1.Federico A, Dotti MT (1996) Cerebrotendinous xanthomatosis. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology. Elsevier, Amsterdam, pp 599–613Google Scholar
- 15.Guerrera S, Stromillo ML, Mignarri A, Battaglini M, Marino S, Di Perri C, Federico A, Dotti MT, De Stefano N (2010) Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis. J Neurol Neurosurg Psychiatry 81:1189–1193. doi: 10.1136/jnnp.2009.203364 PubMedCrossRefGoogle Scholar