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Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

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JIMD Reports, Volume 20

Part of the book series: JIMD Reports ((JIMD,volume 20))

Abstract

Objective: Cerebrovascular abnormalities have been reported in adult patients with Pompe disease. The objective was to study these abnormalities by (1) determining the diameter and mean flow velocity (MFV) of large cerebral arteries and (2) estimating cerebral blood flow (CBF), resistance index (RI) and cerebrovascular reactivity (CVR) as functions of resistance vessels.

Methods: In ten adults with Pompe disease and twenty controls, the diameter, peak systolic (PSV) and end-diastolic velocities (EDV) of arteries supplying the brain were quantified by MR angiography and sonography. MFV, RI and CBF were calculated. CVR in the middle cerebral artery (MCA) was determined by hyperventilation and acetazolamide injection.

Results: MR angiography revealed dilation of cerebral arteries predominantly in the posterior circulation. Dilative arteriopathy was found in three patients; two of them showed vertebrobasilar dolichoectasia. Despite of the dilative arteriopathy, the MFV was normal, indicating increased CBF and dilated resistance vessels. RI of all examined arteries and CVR of MCA were normal.

Conclusion: The data suggest that dilation of small and large cerebral arteries is a common feature in adults with Pompe disease. Increased CBF might be the consequence of dilated resistance vessels. However, dysfunction of resistance vessels was rarely found.

Synopsis: In adults with Pompe disease, dilation of small and large cerebral arteries is a common feature and might be associated with increased cerebral blood flow.

Competing interests: None declared

Ole Hensel and F. Hanisch have contributed equally.

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Acknowledgements

We thank P. R. Joshi, S. Demuth and Z. Lukacs for the genetic and enzymatic analysis, K. Birch and A. C. F. van Maanen for copyediting the manuscript and O. Kuß for the statistical support. We also gratefully acknowledge the effort of all the patients who participated in the study.

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Authors and Affiliations

  1. Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120, Halle (Saale), Germany

    Ole Hensel, F. Hanisch, M. Deschauer & T. Müller

  2. Department of Diagnostic Radiology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120, Halle (Saale), Germany

    K. Stock & D. Stoevesandt

Authors
  1. Ole Hensel
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  2. F. Hanisch
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  3. K. Stock
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  4. D. Stoevesandt
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  5. M. Deschauer
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  6. T. Müller
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Corresponding author

Correspondence to Ole Hensel .

Editor information

Editors and Affiliations

  1. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  2. Division for Metabolic Diseases, University Children´s Hospital, Zürich, Switzerland

    Matthias Baumgartner

  3. Tulane University Medical School, New Orleans, Louisiana, USA

    Eva Morava

  4. Division of Child and Adolescent Neurolo, Mayo Clinic, Rochester, USA

    Marc Patterson

  5. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

    Shamima Rahman

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Jutta Gaertner

Compliance with Ethics Guidelines

Compliance with Ethics Guidelines

Conflict of Interest

  • F. Hanisch has received lecturer honoraria from Genzyme Corporation.

  • M. Deschauer has received payment for lectures and manuscript preparation and a grant from Genzyme Corporation.

  • T. Müller has received speaking fees from Boehringer Ingelheim.

  • O. Hensel, D. Stoevesandt and K. Stock report no disclosure.

Informed Consent

  • All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients prior to inclusion.

Individual Contributions

  • O. Hensel: acquisition, analysis and interpretation of sonography data; drafting and revising the manuscript content, including the medical content; corresponding author

  • F. Hanisch: study concept and design; recruitment of patients; drafting and revising the manuscript content, including the medical content; interpretation of data

  • K. Stock: acquisition, analysis and interpretation of radiological data, drafting and revising the manuscript content

  • D. Stoevesandt: acquisition, analysis and interpretation of radiological data, drafting and revising the manuscript content

  • M. Deschauer: study concept and design, revising the manuscript content

  • T. Müller: study concept and design; drafting and revising the manuscript content, including medical writing of content; interpretation of data; study supervision and coordination; principal investigator

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© 2014 SSIEM and Springer-Verlag Berlin Heidelberg

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Hensel, O., Hanisch, F., Stock, K., Stoevesandt, D., Deschauer, M., Müller, T. (2014). Morphology and Function of Cerebral Arteries in Adults with Pompe Disease. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 20. JIMD Reports, vol 20. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_385

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  • DOI: https://doi.org/10.1007/8904_2014_385

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-46699-5

  • Online ISBN: 978-3-662-46700-8

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