Central nervous system involvement in late ‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis
ConclusionsIn this LOPD cohort the results showed morphological and functional brain alterations with mild neuropsychological dysfunction, mainly in the limb ‐girdle muscle weakness group. Cerebrovascular alterations seemed to be not related to common risk factors, suggesting a major role of enzymatic deficiency in the pathogenesis of brain abnormalities.
Source: European Journal of Neurology - Category: Neurology Authors: O. Musumeci,
S. Marino,
F. Granata,
R. Morabito,
L. Bonanno,
T. Brizzi,
V. Lo Buono,
F. Corallo,
M. Longo,
A. Toscano Tags: Original Article Source Type: research
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