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Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.
J Neurol. 2017 Oct; 264(10):2110-2118.JN

Abstract

Pompe disease is an autosomal recessive disorder in which deficiency of the lysosomal enzyme acid alpha-glucosidase results in the accumulation of glycogen mostly in muscle tissues. Several reports suggest a higher incidence of intracranial vascular abnormalities (IVAs) in this condition, as well as brain microbleeds and cerebral vasculopathy. The aim of our study was to evaluate through neuroimaging studies the incidence of these anomalies in our cohort of late-onset Pompe disease (LOPD) patients asymptomatic for cerebrovascular disease, looking for correlations with clinical and genetic data. We studied 18 LOPD patients with brain magnetic resonance angiography (MRA), or contrast-enhanced computed tomography (CECT). Diameters of individual arteries were measured and compared with average values as proposed in the literature. We found IVAs in 13 of the 18 patients, mostly dilatative arteriopathy affecting the vertebrobasilar system. The anterior circle was involved in seven of the 18 patients. The diameter of the basilar artery at 1 cm was found to correlate both with age (spearman rho, p = 0.037) and disease duration (p = 0.004), but no other statistically significant correlation was documented. The incidence of intracranial dilatative arteriopathy in LOPD was higher than in the general population, confirming the literature data. However, we did not find intracranial aneurysms microbleeds or significant cerebrovascular disease. Abnormalities in the anterior and the posterior circle of Willis correlated with age and disease duration, but not with the severity of muscle/respiratory involvement or with genetic data. Further studies in larger cohorts of patients are needed to confirm these findings.

Authors+Show Affiliations

Neuroradiology Department, C. Mondino National Neurological Institute, Pavia, Italy.Institute of Radiology, University of Pavia, Pavia, Italy. saccosimone88@gmail.com.Department of Molecular Medicine, University of Pavia and Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy.Neurology, University of California, San Francisco, San Francisco, CA, United States. Biomedical Sciences PhD, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.Department of Public Health and Neurosciences, University of Pavia, Pavia, Italy.Neuroradiology Department, C. Mondino National Neurological Institute, Pavia, Italy. Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.Department of Molecular Medicine, University of Pavia and Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28856460

Citation

Pichiecchio, A, et al. "Late-onset Pompe Disease: a Genetic-radiological Correlation On Cerebral Vascular Anomalies." Journal of Neurology, vol. 264, no. 10, 2017, pp. 2110-2118.
Pichiecchio A, Sacco S, De Filippi P, et al. Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies. J Neurol. 2017;264(10):2110-2118.
Pichiecchio, A., Sacco, S., De Filippi, P., Caverzasi, E., Ravaglia, S., Bastianello, S., & Danesino, C. (2017). Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies. Journal of Neurology, 264(10), 2110-2118. https://doi.org/10.1007/s00415-017-8601-1
Pichiecchio A, et al. Late-onset Pompe Disease: a Genetic-radiological Correlation On Cerebral Vascular Anomalies. J Neurol. 2017;264(10):2110-2118. PubMed PMID: 28856460.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies. AU - Pichiecchio,A, AU - Sacco,S, AU - De Filippi,P, AU - Caverzasi,E, AU - Ravaglia,S, AU - Bastianello,S, AU - Danesino,C, Y1 - 2017/08/30/ PY - 2017/07/21/received PY - 2017/08/18/accepted PY - 2017/08/16/revised PY - 2017/9/1/pubmed PY - 2018/7/3/medline PY - 2017/9/1/entrez KW - Angio-MR KW - Brain MR KW - Glycogenosis II KW - Pompe disease SP - 2110 EP - 2118 JF - Journal of neurology JO - J. Neurol. VL - 264 IS - 10 N2 - Pompe disease is an autosomal recessive disorder in which deficiency of the lysosomal enzyme acid alpha-glucosidase results in the accumulation of glycogen mostly in muscle tissues. Several reports suggest a higher incidence of intracranial vascular abnormalities (IVAs) in this condition, as well as brain microbleeds and cerebral vasculopathy. The aim of our study was to evaluate through neuroimaging studies the incidence of these anomalies in our cohort of late-onset Pompe disease (LOPD) patients asymptomatic for cerebrovascular disease, looking for correlations with clinical and genetic data. We studied 18 LOPD patients with brain magnetic resonance angiography (MRA), or contrast-enhanced computed tomography (CECT). Diameters of individual arteries were measured and compared with average values as proposed in the literature. We found IVAs in 13 of the 18 patients, mostly dilatative arteriopathy affecting the vertebrobasilar system. The anterior circle was involved in seven of the 18 patients. The diameter of the basilar artery at 1 cm was found to correlate both with age (spearman rho, p = 0.037) and disease duration (p = 0.004), but no other statistically significant correlation was documented. The incidence of intracranial dilatative arteriopathy in LOPD was higher than in the general population, confirming the literature data. However, we did not find intracranial aneurysms microbleeds or significant cerebrovascular disease. Abnormalities in the anterior and the posterior circle of Willis correlated with age and disease duration, but not with the severity of muscle/respiratory involvement or with genetic data. Further studies in larger cohorts of patients are needed to confirm these findings. SN - 1432-1459 UR - https://www.unboundmedicine.com/medline/citation/28856460/Late_onset_Pompe_disease:_a_genetic_radiological_correlation_on_cerebral_vascular_anomalies_ L2 - https://dx.doi.org/10.1007/s00415-017-8601-1 DB - PRIME DP - Unbound Medicine ER -