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Related Experiment Videos

Small fiber dysfunction predominates in Fabry neuropathy.

M Dütsch1, H Marthol, B Stemper

  • 1Department of Neurology, New York University, New York, NY 10016, USA.

Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society
|December 19, 2002
PubMed
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Fabry disease primarily affects small nerve fibers, leading to more significant dysfunction than in large fibers. This study confirms a higher vulnerability of small-diameter nerve fibers in patients with Fabry disease.

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Fabry disease is an X-linked genetic disorder caused by reduced alpha-galactosidase A activity.
  • Glycolipid accumulation affects various organs, including the nervous system, causing neurological symptoms like peripheral neuropathy.
  • Previous neurophysiological findings on nerve fiber dysfunction in Fabry disease are inconsistent.

Purpose of the Study:

  • To evaluate and differentiate large and small nerve fiber function in Fabry disease patients.
  • To clarify the extent of large and small fiber involvement using neurophysiological methods.
  • To compare nerve fiber dysfunction in Fabry patients with healthy controls.

Main Methods:

  • Assessed motor and sensory conduction velocities (MCV, SCV) for large fiber function.

Related Experiment Videos

  • Recorded sympathetic skin responses (SSR) to evaluate autonomic sudomotor function.
  • Determined vibratory detection thresholds (VDT), cold detection thresholds (CDT), and heat-pain detection thresholds (HPDT) for small fiber function (Aβ, Aδ, and C fibers).

    • Main Results:

    • Fabry patients showed significantly decreased amplitudes in MCVs and SCVs, though individual impairments were mild.
    • Sympathetic skin response amplitudes were significantly reduced in Fabry patients compared to controls.
    • Elevated VDT, CDT, and HPDT indicated significant small fiber dysfunction, with more patients affected in CDT and HPDT assessments.

    Conclusions:

    • Small fiber dysfunction is more prominent than large fiber dysfunction in Fabry disease.
    • The findings suggest that small-diameter nerve fibers are more vulnerable than thickly myelinated fibers in Fabry disease.
    • This study confirms previous sural nerve biopsy findings through comprehensive neurophysiological assessments.