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Published on: January 7, 2019
Neurophysiological study in cerebrotendinous xanthomatosis
Belen Pilo1, Gema de Blas, Maria Jesus Sobrido
1Neurology Division, Hospital del Sureste, c/ Ronda del Sur s/n, 28500 Madrid, Spain. bpilodelafuente@yahoo.es
Muscle & Nerve
|March 16, 2011
Summary
Cerebrotendinous xanthomatosis (CTX) patients often exhibit sensorimotor, demyelinating polyneuropathy. Neurophysiological studies are recommended only when clinical symptoms of peripheral neuropathy appear.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive disorder caused by 27α-hydroxylase gene mutations.
- Clinical features include cataracts, xanthomas, and neurological symptoms, with polyneuropathy being a noted manifestation.
Purpose of the Study:
- To characterize the clinical and neurophysiological findings in patients with Cerebrotendinous xanthomatosis (CTX).
- To determine the nature of polyneuropathy in CTX patients and its correlation with clinical presentation.
Main Methods:
- Clinical assessment and neurophysiological studies (somatosensory evoked potentials, brainstem auditory evoked potentials, visual evoked potentials) were performed on 13 Spanish patients diagnosed with CTX.
- Analysis of peripheral neuropathy type (axonal, demyelinating, mixed) and clinical symptoms.
Main Results:
- Peripheral neuropathy was present in 62% of patients, predominantly sensorimotor and demyelinating.
- Neurophysiological abnormalities were observed in evoked potentials, including SSEPs (38-67%), BAEPs (50%), and VEPs (43%).
- Clinical signs/symptoms of peripheral neuropathy were present in all affected patients.
Conclusions:
- Polyneuropathy in CTX is typically sensorimotor and demyelinating.
- Neurophysiological findings showed only partial correlation with clinical follow-up.
- Neurophysiological follow-up is advised primarily when clinical symptoms are evident.
