Your browser doesn't support javascript.
loading
Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease.
Najac, Chloé; van der Beek, Nadine A M E; Boer, Vincent O; van Doorn, Pieter A; van der Ploeg, Ans T; Ronen, Itamar; Kan, Hermien E; van den Hout, Johanna M P.
Afiliación
  • Najac C; C.J. Gorter MRI Center, Department of Radiology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • van der Beek NAME; Center for Lysosomal and Metabolic Diseases, Department of Neurology, Erasmus MC University Medical Center, 3000 CA Rotterdam, The Netherlands.
  • Boer VO; Danish Research Center for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, DK2650 Copenhagen, Denmark.
  • van Doorn PA; Center for Lysosomal and Metabolic Diseases, Department of Neurology, Erasmus MC University Medical Center, 3000 CA Rotterdam, The Netherlands.
  • van der Ploeg AT; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, 3000 CA Rotterdam, The Netherlands.
  • Ronen I; Clinical Imaging Sciences Centre, Brighton and Sussex Medical School, Brighton, East Sussex BN1 9RR, UK.
  • Kan HE; C.J. Gorter MRI Center, Department of Radiology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • van den Hout JMP; Duchenne Center Netherlands, 2333 ZA Leiden, The Netherlands.
Brain Commun ; 6(5): fcae303, 2024.
Article en En | MEDLINE | ID: mdl-39309683
ABSTRACT
Classic infantile Pompe disease is caused by abnormal lysosomal glycogen accumulation in multiple tissues, including the brain due to a deficit in acid α-glucosidase. Although treatment with recombinant human acid α-glucosidase has dramatically improved survival, recombinant human acid α-glucosidase does not reach the brain, and surviving classic infantile Pompe patients develop progressive cognitive deficits and white matter lesions. We investigated the feasibility of measuring non-invasively glycogen build-up and other metabolic alterations in the brain of classic infantile Pompe patients. Four classic infantile patients (8-16 years old) and 4 age-matched healthy controls were scanned on a 7 T MRI scanner. We used T2-weighted MRI to assess the presence of white matter lesions as well as 1H magnetic resonance spectroscopy and magnetic resonance spectroscopy imaging to obtain the neurochemical profile and its spatial distribution, respectively. All patients had widespread white matter lesions on T2-weighted images. Magnetic resonance spectroscopy data from a single volume of interest positioned in the periventricular white matter showed a clear shift in the neurochemical profile, particularly a significant increase in glycogen (result of acid α-glucosidase deficiency) and decrease in N-acetyl-aspartate (marker of neuronal damage) in patients. Magnetic resonance spectroscopy imaging results were in line and showed a widespread accumulation of glycogen and a significant lower level of N-acetyl-aspartate in patients. Our results illustrate the unique potential of 1H magnetic resonance spectroscopy (imaging) to provide a non-invasive readout of the disease pathology in the brain. Further study will assess its potential to monitor disease progression and the correlation with cognitive decline.
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Brain Commun Año: 2024 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Brain Commun Año: 2024 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido