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Abstract
Objective: To investigate the presence of small nerve fiber dysfunction in subjects with X-linked adrenoleukodystrophy.
Methods: Cross-sectional study in which 11 Norwegian subjects (3 males, 8 females) with X-linked adrenoleukodystrophy, phenotypes ranging from asymptomatic to wheelchair-bound with adrenomyeloneuropathy, were investigated with neurophysiologic studies including EMG, nerve conduction velocities, quantitative sensory testing, tests of autonomic function, and skin biopsy for intraepidermal nerve fiber density measurements.
Results: We found small nerve fiber dysfunction in 10 of 11 subjects, increasing with age and more pronounced in males. Low intraepidermal nerve fiber densities were found in 5 of 11 subjects, indicating a loss of thin unmyelinated nerve fibers peripherally. Five of 11 subjects showed small nerve fiber dysfunction despite normal nerve fiber densities, suggesting possible involvement of the spinothalamic tracts. Two subjects showed moderate abnormalities in autonomic function tests.
Conclusions: Evidence of small nerve fiber dysfunction was widespread in this cohort of subjects with X-linked adrenoleukodystrophy, with findings indicating loss of peripheral small nerve fibers and possibly also fibers of the spinothalamic tracts. The results support the theory of primary axonal degeneration in adrenomyeloneuropathy. Evidence of nervous system involvement was found in all heterozygotes, with severity increasing with age. Clinicians caring for these patients should be alert to signs of small nerve fiber involvement.
GLOSSARY
- AMN=
- adrenomyeloneuropathy;
- CASS=
- composite autonomic severity score;
- IENFD=
- intraepidermal nerve fiber density;
- NCV=
- nerve conduction velocity;
- QSART=
- Quantitative Sudomotor Axon Reflex Test;
- QST=
- quantitative sensory testing;
- X-ALD=
- X-linked adrenoleukodystrophy
Footnotes
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
- Received November 14, 2013.
- Accepted in final form February 12, 2014.
- © 2014 American Academy of Neurology
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