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01.11.2013 | Original Article

The brain in late-onset glycogenosis II: a structural and functional MRI study

verfasst von: Barbara Borroni, M. S. Cotelli, E. Premi, S. Gazzina, M. Cosseddu, A. Formenti, R. Gasparotti, M. Filosto, A. Padovani

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 6/2013

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Abstract

Background

Late-onset glycogenosis type II (GSD II) is a rare, multisystem disorder mainly affecting limb and respiratory muscles due to acid alpha glucosidase deficiency. Despite evidence at autopsy of glycogen accumulation in the brain, no study exploring brain functions is yet available.

Objective

Our objective in this study was to assess brain changes in late-onset GSD II.

Methods

Each patient underwent a standardized neuropsychological assessment, regional grey-matter (GM) atrophy, and resting-state functional magnetic resonance imaging (RS-fMRI). Functional connectivity maps of the salience (SN) and default-mode (DMN) networks were considered. A group of age- and gender-matched healthy controls was enrolled for MRI comparisons. P values family-wise error (FWE) cluster level corrected inferior to 0.05 were considered.

Results

Nine GSD II patients (age 46.6 ± 8.0; 55 % male) were recruited. No significant GM atrophy was found in patients compared with controls (n = 18; age 48.0 ± 9.8,;40 % male). Functional connectivity within the SN was selectively reduced in patients, and cingulate gyrus and medial frontal cortex were mainly involved. Accordingly, patients had significant impairment of executive functions (as measured by Wisconsin Card Sorting test), whereas other cognitive domains were within mean normal ranges.

Conclusions

Our findings extend the clinical spectrum of GSD II by indicating that brain changes occur in this muscular disorder. Above all, these results should lead to better examinations of therapeutic approaches and perspectives for the affected patients. Further studies evaluating in depth these issues are warranted.

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Titel: The brain in late-onset glycogenosis II: a structural and functional MRI study
verfasst von: Barbara Borroni
M. S. Cotelli
E. Premi
S. Gazzina
M. Cosseddu
A. Formenti
R. Gasparotti
M. Filosto
A. Padovani
Publikationsdatum: 01.11.2013
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 6/2013
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-013-9601-7

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The brain in late-onset glycogenosis II: a structural and functional MRI study