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Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

  • Ole HenselEmail author
  • F. Hanisch
  • K. Stock
  • D. Stoevesandt
  • M. Deschauer
  • T. Müller
Research Report
Part of the JIMD Reports book series (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.

Keywords

Adults with Pompe disease Dilative arteriopathy and dolichoectasia Cerebral blood flow Cerebrovascular reactivity 

Notes

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.

References

  1. Cipullo F, Sampaolo S, Farina O, Simonetti M, Cirillo M, Di Iorio G (2013) Cerebral vascular anomalies in a large Italian family with late-onset glycogenosis II. BMC Musculoskelet Disord 14(Suppl 2):P10CrossRefPubMedCentralGoogle Scholar
  2. Dobrin PB (1978) Mechanical properties of arteries. Physiol Rev 58:397–460PubMedGoogle Scholar
  3. Eicke BM, Buss E, Bähr RR, Hajak G, Paulus W (1999) Influence of acetazolamide and CO2 on extracranial flow volume and intracranial blood flow velocity. Stroke 30:76–80CrossRefPubMedGoogle Scholar
  4. El-Gharbawy AH, Bhat G, Murillo JE et al (2011) Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. Mol Genet Metab 103:362–366CrossRefPubMedGoogle Scholar
  5. Garancis JC (1968) Type II glycogenosis. Biochemical and electron microscopic study. Am J Med 44:289–300CrossRefPubMedGoogle Scholar
  6. Heistad DD and Kontos HA (1983) Cerebral Circulation. In: Shepherd JT and Abboud FM (eds) Handbook of physiology, Section 2: The Cardiovascular System, Volume III, Peripheral Circulation and Organ Blood Flow, Part 1. American Physiological Society, Washington DC, pp 137–182Google Scholar
  7. Hoi Y, Gao L, Tremmel M et al (2008) In vivo assessment of rapid cerebrovascular morphological adaptation following acute blood flow increase. J Neurosurg 109:1141–1147CrossRefPubMedCentralPubMedGoogle Scholar
  8. Ichikawa H, Takahashi N, Mukai M, Katoh H, Akizawa T, Kawamura M (2009) Intracranial dilative arteriopathy is associated with chronic kidney disease and small vessel diseases in the elderly. J Stroke Cerebrovasc Dis 18:435–442CrossRefPubMedGoogle Scholar
  9. Joshi PR, Gläser D, Schmidt S et al (2008) Molecular diagnosis of German patients with late-onset glycogen storage disease type II. J Inherit Metab Dis 31(Suppl 2):S261–S265CrossRefPubMedGoogle Scholar
  10. Kretzschmar HA, Wagner H, Hübner G, Danek A, Witt TN, Mehraein P (1990) Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency. J Neurol Sci 98:169–183CrossRefPubMedGoogle Scholar
  11. Laforêt P, Petiot P, Nicolino M et al (2008) Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology 70:2063–2066CrossRefPubMedGoogle Scholar
  12. Loftus IM, Thompson MM (2002) The role of matrix metalloproteinases in vascular disease. Vasc Med 7:117–133CrossRefPubMedGoogle Scholar
  13. Makos MM, McComb RD, Hart MN, Bennett DR (1987) Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship. Ann Neurol 22:629–633CrossRefPubMedGoogle Scholar
  14. Matsuoka Y, Senda Y, Hirayama M, Matsui T, Takahashi A (1988) Late-onset acid maltase deficiency associated with intracranial aneurysm. J Neurol 235:371–373CrossRefPubMedGoogle Scholar
  15. McCarron RM, Chen Y, Tomori T et al (2006) Endothelial-mediated regulation of cerebral microcirculation. J Physiol Pharmacol 57(Suppl 11):133–144PubMedGoogle Scholar
  16. Pompe JC (1932) Over idiopathische hypertrophic van het hart. Ned Tijdschr Geneeskd 76:304–311Google Scholar
  17. Sacconi S, Bocquet JD, Chanalet S, Tanant V, Salviati L, Desnuelle C (2010) Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol 257:1730–1733CrossRefPubMedGoogle Scholar
  18. Sho E, Nanjo H, Sho M et al (2004) Arterial enlargement, tortuosity, and intimal thickening in response to sequential exposure to high and low wall shear stress. J Vasc Surg 39:601–612CrossRefPubMedGoogle Scholar
  19. Ubogu EE, Zaidat OO (2004) Vertebrobasilar dolichoectasia diagnosed by magnetic resonance angiography and risk of stroke and death: a cohort study. J Neurol Neurosurg Psychiatry 75:22–26CrossRefPubMedCentralPubMedGoogle Scholar
  20. van der Ploeg AT, Clemens PR, Corzo D et al (2010) A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 362:1396–1406CrossRefPubMedGoogle Scholar
  21. Wens SCA, Kuperus E, Mattace-Raso FUS et al (2014) Increased aortic stiffness and blood pressure in non-classic Pompe disease. J Inherit Metab Dis 37:391–397PubMedCentralPubMedGoogle Scholar
  22. Yu YL, Moseley IF, Pullicino P, McDonald WI (1982) The clinical picture of ectasia of the intracerebral arteries. J Neurol Neurosurg Psychiatry 45:29–36CrossRefPubMedCentralPubMedGoogle Scholar

Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Ole Hensel
    • 1
    Email author
  • F. Hanisch
    • 1
  • K. Stock
    • 2
  • D. Stoevesandt
    • 2
  • M. Deschauer
    • 1
  • T. Müller
    • 1
  1. 1.Department of NeurologyMartin-Luther-University Halle-WittenbergHalle (Saale)Germany
  2. 2.Department of Diagnostic RadiologyMartin-Luther-University Halle-WittenbergHalle (Saale)Germany

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