Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies

@article{Pichiecchio2017LateonsetPD,
  title={Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies},
  author={Anna Pichiecchio and S Sacco and Paola De Filippi and Eduardo Caverzasi and Sabrina Ravaglia and Stefano Bastianello and Cesare Danesino},
  journal={Journal of Neurology},
  year={2017},
  volume={264},
  pages={2110-2118}
}
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… CONTINUE READING
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