Cargando…

Reduced Intracranial Volume in Fabry Disease: Evidence of Abnormal Neurodevelopment?

Introduction: Lysosomal storage disorders (LSD) are often characterized by abnormal brain development, reflected by a reduction of intracranial volume (ICV). The aim of our study was to perform a volumetric analysis of intracranial tissues in Fabry Disease (FD), investigating possible reductions of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pontillo, Giuseppe, Cocozza, Sirio, Brunetti, Arturo, Brescia Morra, Vincenzo, Riccio, Eleonora, Russo, Camilla, Saccà, Francesco, Tedeschi, Enrico, Pisani, Antonio, Quarantelli, Mario
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107697/ https://www.ncbi.nlm.nih.gov/pubmed/30174644 http://dx.doi.org/10.3389/fneur.2018.00672

Ejemplares similares

Absence of infratentorial lesions in Fabry disease contributes to differential diagnosis with multiple sclerosis
por: Ugga, Lorenzo, et al.
Publicado: (2018)

Motor involvement in Fabry disease
por: Cocozza, Sirio, et al.
Publicado: (2017)

Neuroimaging in Fabry disease: current knowledge and future directions
por: Cocozza, Sirio, et al.
Publicado: (2018)

Association between Left Atrial Deformation and Brain Involvement in Patients with Anderson-Fabry Disease at Diagnosis
por: Esposito, Roberta, et al.
Publicado: (2020)

Microstructural damage of the cortico-striatal and thalamo-cortical fibers in Fabry disease: a diffusion MRI tractometry study
por: Cocozza, Sirio, et al.
Publicado: (2020)

Structural disconnection and functional reorganization in Fabry disease: a multimodal MRI study
por: Gabusi, Ilaria, et al.
Publicado: (2022)

Optical Coherence Tomography Angiography Findings in Fabry Disease
por: Cennamo, Gilda, et al.
Publicado: (2019)

Neuroimaging Correlates of Cognitive Dysfunction in Adults with Multiple Sclerosis
por: Petracca, Maria, et al.
Publicado: (2021)

Stratification of multiple sclerosis patients using unsupervised machine learning: a single-visit MRI-driven approach
por: Pontillo, Giuseppe, et al.
Publicado: (2022)

The Retinal Vessel Density as a New Vascular Biomarker in Multisystem Involvement in Fabry Disease: An Optical Coherence Tomography Angiography Study
por: Cennamo, Gilda, et al.
Publicado: (2020)

Brain Susceptibility Changes in a Patient with Natalizumab-Related Progressive Multifocal Leukoencephalopathy: A Longitudinal Quantitative Susceptibility Mapping and Relaxometry Study
por: Pontillo, Giuseppe, et al.
Publicado: (2017)

Cognitive and functional connectivity alterations in Friedreich's ataxia
por: Cocozza, Sirio, et al.
Publicado: (2018)

Correction to: Clinical correlates of R1 relaxometry and magnetic susceptibility changes in multiple sclerosis: a multi-parameter quantitative MRI study of brain iron and myelin
por: Pontillo, Giuseppe, et al.
Publicado: (2022)

Clinical correlates of R1 relaxometry and magnetic susceptibility changes in multiple sclerosis: a multi-parameter quantitative MRI study of brain iron and myelin
por: Pontillo, Giuseppe, et al.
Publicado: (2022)

Brain Plasticity in Charcot-Marie-Tooth Type 1A Patients? A Combined Structural and Diffusion MRI Study
por: Pontillo, Giuseppe, et al.
Publicado: (2020)

Longitudinal Assessment of Dentate Nuclei Relaxometry during Massive Gadobutrol Exposure
por: Tedeschi, Enrico, et al.
Publicado: (2017)

Possible progressive multifocal leukoencephalopathy and active multiple sclerosis under dimethyl fumarate: the central role of MRI in informing therapeutic decisions
por: Vola, Elena Augusta, et al.
Publicado: (2021)

Intracranial extension of orbital inflammatory pseudotumor: a case report and literature review
por: Tedeschi, Enrico, et al.
Publicado: (2016)

DNA methylation impact on Fabry disease
por: Di Risi, Teodolinda, et al.
Publicado: (2021)

Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data
por: Riccio, Eleonora, et al.
Publicado: (2020)

Cognitive trajectories in multiple sclerosis: a long-term follow-up study
por: Carotenuto, Antonio, et al.
Publicado: (2021)

Does left ventricular function predict cardiac outcome in Anderson–Fabry disease?
por: Spinelli, Letizia, et al.
Publicado: (2020)

Magnetic resonance parkinsonism indices and interpeduncular angle in idiopathic normal pressure hydrocephalus and progressive supranuclear palsy
por: Ugga, Lorenzo, et al.
Publicado: (2020)

Neural substrates of verbal memory impairment in schizophrenia: A multimodal connectomics study
por: Tranfa, Mario, et al.
Publicado: (2023)

Medication adherence in Fabry patients treated with migalastat: Real world experience
por: Riccio, Eleonora, et al.
Publicado: (2023)

Agalsidase alfa and agalsidase beta in the treatment of Fabry disease: does the dose really matter?
por: Pisani, Antonio, et al.
Publicado: (2015)

Impact of COVID-19 pandemic on patients with Fabry disease: An Italian experience
por: Riccio, Eleonora, et al.
Publicado: (2020)

Pain in Fabry Disease: Could Spinal Cord Stimulation be a Solution?
por: Buonanno, Pasquale, et al.
Publicado: (2023)

Default-Mode Network Changes in Huntington’s Disease: An Integrated MRI Study of Functional Connectivity and Morphometry
por: Quarantelli, Mario, et al.
Publicado: (2013)

Biofeedback Rehabilitation and Visual Cortex Response in Stargardt's Disease: A Randomized Controlled Trial
por: Melillo, Paolo, et al.
Publicado: (2020)

Voxel-based analysis of gray matter relaxation rates shows different correlation patterns for cognitive impairment and physical disability in relapsing-remitting multiple sclerosis
por: Cassiano, Maria Teresa, et al.
Publicado: (2020)

RESUME: Turning an SWI acquisition into a fast qMRI protocol
por: Monti, Serena, et al.
Publicado: (2017)

Conventional MRI findings in hereditary degenerative ataxias: a pictorial review
por: Cocozza, Sirio, et al.
Publicado: (2021)

Differential diagnosis of benign and malignant vertebral compression fractures using conventional and advanced MRI techniques
por: Romeo, Valeria, et al.
Publicado: (2019)

Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations
por: Ruggiero, Lucia, et al.
Publicado: (2020)

M139. DIFFERENTIAL PATTERNS OF BRAIN METABOLISM IN STABILIZED, ACTIVELY SYMPTOMATIC TREATMENT RESISTANT VS. TREATMENT RESPONDER SCHIZOPHRENIA PATIENTS: A STUDY BY 18F-FDG-POSITRON EMISSION TOMOGRAPHY AND STRUCTURAL 3T MRI
por: Iasevoli, Felice, et al.
Publicado: (2020)

Machine learning classifier to identify clinical and radiological features relevant to disability progression in multiple sclerosis
por: Tommasin, Silvia, et al.
Publicado: (2021)

Cardiac abnormalities in Anderson-Fabry disease and Fabry’s cardiomyopathy
por: Morrissey, Ryan P, et al.
Publicado: (2011)

Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease
por: Pisani, Antonio, et al.
Publicado: (2015)

A critical appraisal of the quality of head and neck cancer imaging guidelines using the AGREE II tool: A EuroAIM initiative
por: Romeo, Valeria, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_robu3g5ndh3mbj4c01cbokd45k