White matter lesions in treated late onset Pompe disease are not different to matched controls.

Abstract

INTRODUCTION:

Genetic deficiency of α-1,4-glucosidase leads to multi-systemic glycogen storage and causes muscular disorder known as classic infantile Pompe disease (CIOPD) and late onset Pompe disease (LOPD). Treatment with recombinant human alglucosidase alfa is available as enzyme replacement therapy (ERT). Recently progressive white matter lesions (WML) have been observed as a new phenotype in CIOPD patients on treatment with ERT.

OBJECTIVE:

To investigate the impact of disease and ERT for the development of WML in LOPD.

METHODS:

WML were analysed in 19 treated LOPD patients and compared with findings of 38 matched controls.

RESULTS:

Patients median age was 54.4 years (range 19 to 82 years) with median disease duration of 7 years (range 2 to 40 years). Median ERT duration was 63 months (range 9 to 135 months). Grading of WML by Fazekas Score was not different in LOPD patients and controls: Mean of total Fazekas score in LOPD was 2.42 ± 2.40 and in controls 1.60 ± 2.64; p = 0.68. Also volume of WML was similar in patients and controls (mean 5.27 ml ± 5.88 and 7.89 ml ± 11.40 respectively, p = 0.35). Total Fazekas grade correlated directly with the age in LOPD patients (r = 0.60; p = 0.007) and in controls (r = 0.32; p = 0.04). There was a negative correlation of ERT duration and total Fazekas grade (r = -0.41; p = 0.04).

CONCLUSION:

The study suggests that WML in LOPD mainly result from concomitant cerebrovascular risk factors rather than from the Pompe disease itself.

• Authors: Ilka Schneider, Ole Hensel, Stephan Zierz
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 127 Issue 2 Pg. 128-131 (06 2019) ISSN: 1096-7206 [Electronic] United States
• PMID: 31153821 (Publication Type: Journal Article)
• Copyright: Copyright © 2019 Elsevier Inc. All rights reserved.

Chemical References

• GAA protein, human
• alpha-Glucosidases

Topics

• Adult
• Aged
• Aged, 80 and over
• Case-Control Studies
• Enzyme Replacement Therapy (adverse effects)
• Female
• Glycogen Storage Disease Type II (drug therapy, pathology)
• Humans
• Late Onset Disorders (diagnostic imaging, pathology)
• Magnetic Resonance Imaging
• Male
• Middle Aged
• Retrospective Studies
• Risk Factors
• White Matter (diagnostic imaging, pathology)
• Young Adult
• alpha-Glucosidases (genetics)