title: Neurophysiological study in cerebrotendinous xanthomatosis.
abstract: BACKGROUND
  Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive disease due to mutations of the 27α-hydroxylase. It is characterized by cataracts, xanthomas, and neurological manifestations. Polyneuropathy has been reported, although it is unclear whether it is axonal or demyelinating.
  
  
  METHODS
  We report clinical and neurophysiological results of 13 patients with CTX diagnosed in Spain.
  
  
  RESULTS
  In 8 patients (62%), peripheral neuropathy was demonstrated (4 demyelinating, 3 axonal, and 1 mixed; 3 predominantly motor and 5 sensorimotor). All patients had clinical signs/symptoms of peripheral neuropathy. Upper limb somatosensory evoked potentials (SSEPs) were affected in 38% of patients, and lower limb SSEPs in 67%. Fifty percent of patients had delayed brainstem auditory evoked potentials, and 43% had affected visual evoked potentials.
  
  
  CONCLUSIONS
  In this series, polyneuropathy was predominantly sensorimotor and demyelinating. Neurophysiological studies correlated only partially with clinical follow-up. Therefore, we recommend neurophysiological follow-up studies only if clinical symptoms are present.
authors.affiliation: Neurology Division, Hospital del Sureste, c/ Ronda del Sur s/n, 28500 Madrid, Spain. bpilodelafuente@yahoo.es
authors.forename: Belen
authors.initials: B
authors.lastname: Pilo
authors.forename: Gema
authors.initials: G
authors.lastname: de Blas
authors.forename: Maria Jesus
authors.initials: MJ
authors.lastname: Sobrido
authors.forename: Carmen
authors.initials: C
authors.lastname: Navarro
authors.forename: Francisco
authors.initials: F
authors.lastname: Grandas
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Barrero
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Moya
authors.forename: Adriano
authors.initials: A
authors.lastname: Jimenez-Escrig
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005073:Evoked Potentials, Somatosensory / Q000502:physiology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction / Q000502:physiology*; D011115:Polyneuropathies / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology*; D055815:Young Adult