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

Ginanneschi, F., Mignarri, A., Mondelli, M., Gallus, G., DEL PUPPO, M., Giorgi, S., et al. (2013). Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. JOURNAL OF NEUROLOGY, 260(1), 268-274 [10.1007/s00415-012-6630-3].

Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid

DEL PUPPO, MARINA;
2013

Abstract

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
Articolo in rivista - Articolo scientifico
Cerebrotendinous xanthomatosis; Neuropathy; Neurophysiology
English
10-ago-2012
2013
260
1
268
274
none
Ginanneschi, F., Mignarri, A., Mondelli, M., Gallus, G., DEL PUPPO, M., Giorgi, S., et al. (2013). Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. JOURNAL OF NEUROLOGY, 260(1), 268-274 [10.1007/s00415-012-6630-3].
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/44666
Citazioni
  • Scopus 34
  • ???jsp.display-item.citation.isi??? 32
Social impact