Expanding the Neurological Phenotype of Anderson–Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with …
Anderson–Fabry disease (AFD) is a genetic sphingolipidosis involving virtually the entire
body. Among its manifestation, the involvement of the central and peripheral nervous system …
body. Among its manifestation, the involvement of the central and peripheral nervous system …
[HTML][HTML] Anxiety-like behavior and altered hippocampal activity in a transgenic mouse model of Fabry disease
K Kummer, JL Choconta, ML Edenhofer, A Bajpai… - Neurobiology of …, 2025 - Elsevier
Background Fabry disease (FD) patients are known to be at high risk of developing
neuropsychiatric symptoms such as anxiety, depression and cognitive deficits. Despite this …
neuropsychiatric symptoms such as anxiety, depression and cognitive deficits. Despite this …
Developmental differences in canonical cortical networks: insights from microstructure-informed tractography
In response to a growing interest in refining brain connectivity assessments, this study
focuses on integrating white matter fibre-specific microstructural properties into structural …
focuses on integrating white matter fibre-specific microstructural properties into structural …
Clinical and Pathophysiologic Correlates of Basilar Artery Measurements in Fabry Disease
A Scaravilli, S Capasso, L Ugga, I Capuano… - American Journal of …, 2024 - ajnr.org
BACKGROUND AND PURPOSE: Alterations of the basilar artery (BA) anatomy have been
suggested as a possible MRA feature of Fabry disease (FD). Nonetheless, no information …
suggested as a possible MRA feature of Fabry disease (FD). Nonetheless, no information …
In vivo demonstration of globotriaosylceramide brain accumulation in Fabry Disease using MR Relaxometry
G Pontillo, M Tranfa, A Scaravilli, S Monti, I Capuano… - Neuroradiology, 2024 - Springer
Purpose How to measure brain globotriaosylceramide (Gb3) accumulation in Fabry Disease
(FD) patients in-vivo is still an open challenge. The objective of this study is to provide a …
(FD) patients in-vivo is still an open challenge. The objective of this study is to provide a …
[PDF][PDF] Cerebrovascular disorders and Fabry disease
D Moreno-Martínez, L León-Cejas, R Reisin - circulation, 2024 - f.oaes.cc
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants
in the GLA gene encoding for alpha-galactosidase A. Renal, cardiac, and cerebrovascular …
in the GLA gene encoding for alpha-galactosidase A. Renal, cardiac, and cerebrovascular …
Assessing brain involvement in Fabry disease with deep learning and the brain‐age paradigm
A Montella, M Tranfa, A Scaravilli… - Human brain …, 2024 - Wiley Online Library
While neurological manifestations are core features of Fabry disease (FD), quantitative
neuroimaging biomarkers allowing to measure brain involvement are lacking. We used …
neuroimaging biomarkers allowing to measure brain involvement are lacking. We used …