Introduction:
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. Discussion: 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. Muscle Nerve 43: 531–536, 2011