Are evoked potentials in patients with adult-onset pompe disease indicative of clinically relevant central nervous system involvement?

J Clin Neurophysiol. 2014 Aug;31(4):362-6. doi: 10.1097/WNP.0000000000000084.


Purpose: Pompe disease is a multisystem autosomal recessive glycogen storage disease. Autoptic findings in patients with classic infantile and late-onset Pompe disease have proven that accumulation of glycogen can also be found in the peripheral and central nervous system. To assess the functional role of these pathologic findings, multimodal sensory evoked potentials were analyzed.

Methods: Serial recordings for brainstem auditory, visual, and somatosensory evoked potentials of 11 late-onset Pompe patients were reviewed. Data at the onset of the enzyme replacement therapy with alglucosidase alfa were compared with follow-up recordings at 12 and 24 months.

Results: Brainstem auditory evoked potentials showed a delayed peak I in 1/10 patients and an increased I-III and I-V interpeak latency in 1/10 patients, respectively. The III-V interpeak latencies were in the normal range. Visual evoked potentials were completely normal. Median somatosensory evoked potentials showed an extended interpeak latency in 3/9 patients. Wilcoxon tests comparing age-matched subgroups found significant differences in brainstem auditory evoked potentials and visual evoked potentials.

Conclusions: We found that the majority of recordings for evoked potentials were within the ranges for standard values, therefore reflecting the lack of clinically relevant central nervous system involvement. Regular surveillance by means of evoked potentials does not seem to be appropriate in late-onset Pompe patients.

MeSH terms

  • Acoustic Stimulation
  • Adult
  • Central Nervous System / physiopathology*
  • Electroencephalography
  • Evoked Potentials, Auditory, Brain Stem / physiology*
  • Evoked Potentials, Somatosensory / physiology
  • Evoked Potentials, Visual / physiology*
  • Female
  • Follow-Up Studies
  • Glycogen Storage Disease Type II / pathology*
  • Humans
  • Male
  • Middle Aged
  • Photic Stimulation
  • Reaction Time / physiology
  • Time Factors
  • Young Adult