title: Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid.
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.
authors.affiliation: Section of Neurology and Clinical Neurophysiology, Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Ginanneschi
authors.forename: A
authors.initials: A
authors.lastname: Mignarri
authors.forename: M
authors.initials: M
authors.lastname: Mondelli
authors.forename: G N
authors.initials: GN
authors.lastname: Gallus
authors.forename: M
authors.initials: M
authors.lastname: Del Puppo
authors.forename: S
authors.initials: S
authors.lastname: Giorgi
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: A
authors.initials: A
authors.lastname: Rossi
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
mesh_terms: D000200:Action Potentials / Q000187:drug effects / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use*; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics; D004083:Cholestanol / Q000097:blood; D004576:Electromyography; D005260:Female; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009431:Neural Conduction / Q000187:drug effects / Q000235:genetics; D009460:Neurologic Examination; D018696:Neuroprotective Agents / Q000627:therapeutic use*; D011115:Polyneuropathies / Q000188:drug therapy* / Q000209:etiology*; D018709:Statistics, Nonparametric; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications* / Q000235:genetics; D055815:Young Adult
chemical_list: D018696:Neuroprotective Agents; D002635:Chenodeoxycholic Acid; D004083:Cholestanol; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase