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Impaired small fiber conduction in patients with Fabry disease: a neurophysiological case-control study.

Üçeyler N, Kahn AK, Kramer D, Zeller D, Casanova-Molla J, Wanner C, Weidemann F, Katsarava Z, Sommer C - BMC Neurol (2013)

Bottom Line: Data were compared with healthy controls using non-parametric statistical tests.Intraepidermal nerve fiber density (IENFD) was reduced at the lower leg (p < 0.001) and the back (p < 0.05) mainly of men with impaired renal function.PREP amplitudes further decreased with advance in disease severity.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Neurology, University of Wurzburg, Josef-Schneider-Str, 11, 97080 Wurzburg, Germany. ueceyler_n@klinik.uni-wuerzburg.de

ABSTRACT

Background: Fabry disease is an inborn lysosomal storage disorder which is associated with small fiber neuropathy. We set out to investigate small fiber conduction in Fabry patients using pain-related evoked potentials (PREP).

Methods: In this case-control study we prospectively studied 76 consecutive Fabry patients for electrical small fiber conduction in correlation with small fiber function and morphology. Data were compared with healthy controls using non-parametric statistical tests. All patients underwent neurological examination and were investigated with pain and depression questionnaires. Small fiber function (quantitative sensory testing, QST), morphology (skin punch biopsy), and electrical conduction (PREP) were assessed and correlated. Patients were stratified for gender and disease severity as reflected by renal function.

Results: All Fabry patients (31 men, 45 women) had small fiber neuropathy. Men with Fabry disease showed impaired cold (p < 0.01) and warm perception (p < 0.05), while women did not differ from controls. Intraepidermal nerve fiber density (IENFD) was reduced at the lower leg (p < 0.001) and the back (p < 0.05) mainly of men with impaired renal function. When investigating A-delta fiber conduction with PREP, men but not women with Fabry disease had lower amplitudes upon stimulation at face (p < 0.01), hands (p < 0.05), and feet (p < 0.01) compared to controls. PREP amplitudes further decreased with advance in disease severity. PREP amplitudes and warm (p < 0.05) and cold detection thresholds (p < 0.01) at the feet correlated positively in male patients.

Conclusion: Small fiber conduction is impaired in men with Fabry disease and worsens with advanced disease severity. PREP are well-suited to measure A-delta fiber conduction.

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Correlations of sensory profile and nerve fiber density with pain-related evoked potential amplitudes. Scatter plots show correlations between PREP peak-to-peak-amplitudes (PPA) recoded after stimulation at the feet and QST parameters (warm detection threshold, WDT; cold detection threshold, CDT; thermal sensory limen, TSL; vibration detection threshold, VDT). a) PREP PPA correlated positively with CDT in male (correlation coefficient: 0.564, p = 0.002) and female Fabry patients (correlation coefficient: 0.340, p = 0.034). b) PREP PPA correlated positively with WDT only in male Fabry patients (correlation coefficient: 0.390, p = 0.04). c, d) TSL and VDT did not correlate with PREP PPA in either gender. e) Distal IEFND did not correlate with PREP PPA obtained after stimulation at the foot.
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Figure 4: Correlations of sensory profile and nerve fiber density with pain-related evoked potential amplitudes. Scatter plots show correlations between PREP peak-to-peak-amplitudes (PPA) recoded after stimulation at the feet and QST parameters (warm detection threshold, WDT; cold detection threshold, CDT; thermal sensory limen, TSL; vibration detection threshold, VDT). a) PREP PPA correlated positively with CDT in male (correlation coefficient: 0.564, p = 0.002) and female Fabry patients (correlation coefficient: 0.340, p = 0.034). b) PREP PPA correlated positively with WDT only in male Fabry patients (correlation coefficient: 0.390, p = 0.04). c, d) TSL and VDT did not correlate with PREP PPA in either gender. e) Distal IEFND did not correlate with PREP PPA obtained after stimulation at the foot.

Mentions: A positive correlation was found between PREP PPA elicited at the feet and thermal perception thresholds (CDT, WDT) determined at the feet of Fabry patients (Figure 4a, b). In male patients a positive correlation was found for CDT (correlation coefficient: 0.564, p < 0.01) and for WDT (correlation coefficient: 0.390, p < 0.05). In female patients a positive correlation was found only for CDT (correlation coefficient: 0.340, p < 0.05). TSL and VDT did not correlate with PREP PPA in both genders (Figure 4c, d). Also, distal IENFD did not show a correlation with PREP parameters obtained after stimulation at the feet (illustrated for PPA in Figure 4e).


Impaired small fiber conduction in patients with Fabry disease: a neurophysiological case-control study.

Üçeyler N, Kahn AK, Kramer D, Zeller D, Casanova-Molla J, Wanner C, Weidemann F, Katsarava Z, Sommer C - BMC Neurol (2013)

Correlations of sensory profile and nerve fiber density with pain-related evoked potential amplitudes. Scatter plots show correlations between PREP peak-to-peak-amplitudes (PPA) recoded after stimulation at the feet and QST parameters (warm detection threshold, WDT; cold detection threshold, CDT; thermal sensory limen, TSL; vibration detection threshold, VDT). a) PREP PPA correlated positively with CDT in male (correlation coefficient: 0.564, p = 0.002) and female Fabry patients (correlation coefficient: 0.340, p = 0.034). b) PREP PPA correlated positively with WDT only in male Fabry patients (correlation coefficient: 0.390, p = 0.04). c, d) TSL and VDT did not correlate with PREP PPA in either gender. e) Distal IEFND did not correlate with PREP PPA obtained after stimulation at the foot.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3672069&req=5

Figure 4: Correlations of sensory profile and nerve fiber density with pain-related evoked potential amplitudes. Scatter plots show correlations between PREP peak-to-peak-amplitudes (PPA) recoded after stimulation at the feet and QST parameters (warm detection threshold, WDT; cold detection threshold, CDT; thermal sensory limen, TSL; vibration detection threshold, VDT). a) PREP PPA correlated positively with CDT in male (correlation coefficient: 0.564, p = 0.002) and female Fabry patients (correlation coefficient: 0.340, p = 0.034). b) PREP PPA correlated positively with WDT only in male Fabry patients (correlation coefficient: 0.390, p = 0.04). c, d) TSL and VDT did not correlate with PREP PPA in either gender. e) Distal IEFND did not correlate with PREP PPA obtained after stimulation at the foot.
Mentions: A positive correlation was found between PREP PPA elicited at the feet and thermal perception thresholds (CDT, WDT) determined at the feet of Fabry patients (Figure 4a, b). In male patients a positive correlation was found for CDT (correlation coefficient: 0.564, p < 0.01) and for WDT (correlation coefficient: 0.390, p < 0.05). In female patients a positive correlation was found only for CDT (correlation coefficient: 0.340, p < 0.05). TSL and VDT did not correlate with PREP PPA in both genders (Figure 4c, d). Also, distal IENFD did not show a correlation with PREP parameters obtained after stimulation at the feet (illustrated for PPA in Figure 4e).

Bottom Line: Data were compared with healthy controls using non-parametric statistical tests.Intraepidermal nerve fiber density (IENFD) was reduced at the lower leg (p < 0.001) and the back (p < 0.05) mainly of men with impaired renal function.PREP amplitudes further decreased with advance in disease severity.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Neurology, University of Wurzburg, Josef-Schneider-Str, 11, 97080 Wurzburg, Germany. ueceyler_n@klinik.uni-wuerzburg.de

ABSTRACT

Background: Fabry disease is an inborn lysosomal storage disorder which is associated with small fiber neuropathy. We set out to investigate small fiber conduction in Fabry patients using pain-related evoked potentials (PREP).

Methods: In this case-control study we prospectively studied 76 consecutive Fabry patients for electrical small fiber conduction in correlation with small fiber function and morphology. Data were compared with healthy controls using non-parametric statistical tests. All patients underwent neurological examination and were investigated with pain and depression questionnaires. Small fiber function (quantitative sensory testing, QST), morphology (skin punch biopsy), and electrical conduction (PREP) were assessed and correlated. Patients were stratified for gender and disease severity as reflected by renal function.

Results: All Fabry patients (31 men, 45 women) had small fiber neuropathy. Men with Fabry disease showed impaired cold (p < 0.01) and warm perception (p < 0.05), while women did not differ from controls. Intraepidermal nerve fiber density (IENFD) was reduced at the lower leg (p < 0.001) and the back (p < 0.05) mainly of men with impaired renal function. When investigating A-delta fiber conduction with PREP, men but not women with Fabry disease had lower amplitudes upon stimulation at face (p < 0.01), hands (p < 0.05), and feet (p < 0.01) compared to controls. PREP amplitudes further decreased with advance in disease severity. PREP amplitudes and warm (p < 0.05) and cold detection thresholds (p < 0.01) at the feet correlated positively in male patients.

Conclusion: Small fiber conduction is impaired in men with Fabry disease and worsens with advanced disease severity. PREP are well-suited to measure A-delta fiber conduction.

Show MeSH
Related in: MedlinePlus