INTRODUCTION: Brain Magnetic Resonance Imaging (MRI) pattern recognition is crucial for guiding diagnostic process in Alexander Disease (AxD). Prior to identification of the causative genetic etiology for AxD, Van der Knaap et al. defined five MRI criteria for the neuroimaging-based diagnosis of type I AxD.1 We recently published and validated a disease evolution classification model, that subdivided type I AxD into type Ia, Ib, Ic, Id based on the disease progression. No study has been published to date that explores the correlation between MRI findings in AxD type I and the clinical evolution. Our aim is to investigate the presence of specific MRI features that are predictive of disease evolution over time, based on our classification model. CONTENT: Patients with genetically confirmed type I AxD were identified from several Leukodystrophy Centers worldwide. Clinical data were abstracted from the medical records and collected via RedCap, including age at symptoms onset, age at diagnosis, first symptoms, developmental milestones, and molecular confirmation. The patients were retrospectively classified based on the disease evolution classification. An MRI evaluating protocol was created adapting existing MRI scoring systems defined for other leukodystrophies, and brain MRIs were collected as deidentified files at each institution. MRI were analyzed by pediatric neuroradiology and leukodystrophy experts, and the imaging findings were correlated to the subjects’ disease evolution trajectories and disease subtypes. 46 patients were enrolled. For every patient at least 1 MRI was evaluated. A total of 82 MRIs were reviewed. CONCLUSIONS: Our preliminary data suggest that involvement of basal ganglia, cerebellum and medulla oblongata doesn’t correlate with disease evolution trajectories. Moreover, corpus callosum and posterior limbs of the internal capsule were very seldom involved across all subtypes at first MRI. Conversely, the involvement of periventricular and deep parietal white matter at first MRI seems to discriminate between patients whose neurological deteriorations starts either before or after the beginning of adolescence (type Ic and Id).
Preliminary data from the analysis of neuroradiological findings in Type I Alexander Disease / Y. Vaia, C. Parazzini, F.S. Arrigoni, A. Erbetta, I. Moroni, D. Longo, F. Nicita, E. Bertini, S. Libzon, A. Zerem, G. Shahbodagh, M. Heidari, A.R. Tavasoli, G. Lambert, G. Bernard, E. Winter, A. Nagy, F. Eichler, D. Tonduti. ((Intervento presentato al 50. convegno SENP Meeting : 14-16 marzo tenutosi a Milano nel 2024.
Preliminary data from the analysis of neuroradiological findings in Type I Alexander Disease
Y. Vaia;D. Tonduti
2024
Abstract
INTRODUCTION: Brain Magnetic Resonance Imaging (MRI) pattern recognition is crucial for guiding diagnostic process in Alexander Disease (AxD). Prior to identification of the causative genetic etiology for AxD, Van der Knaap et al. defined five MRI criteria for the neuroimaging-based diagnosis of type I AxD.1 We recently published and validated a disease evolution classification model, that subdivided type I AxD into type Ia, Ib, Ic, Id based on the disease progression. No study has been published to date that explores the correlation between MRI findings in AxD type I and the clinical evolution. Our aim is to investigate the presence of specific MRI features that are predictive of disease evolution over time, based on our classification model. CONTENT: Patients with genetically confirmed type I AxD were identified from several Leukodystrophy Centers worldwide. Clinical data were abstracted from the medical records and collected via RedCap, including age at symptoms onset, age at diagnosis, first symptoms, developmental milestones, and molecular confirmation. The patients were retrospectively classified based on the disease evolution classification. An MRI evaluating protocol was created adapting existing MRI scoring systems defined for other leukodystrophies, and brain MRIs were collected as deidentified files at each institution. MRI were analyzed by pediatric neuroradiology and leukodystrophy experts, and the imaging findings were correlated to the subjects’ disease evolution trajectories and disease subtypes. 46 patients were enrolled. For every patient at least 1 MRI was evaluated. A total of 82 MRIs were reviewed. CONCLUSIONS: Our preliminary data suggest that involvement of basal ganglia, cerebellum and medulla oblongata doesn’t correlate with disease evolution trajectories. Moreover, corpus callosum and posterior limbs of the internal capsule were very seldom involved across all subtypes at first MRI. Conversely, the involvement of periventricular and deep parietal white matter at first MRI seems to discriminate between patients whose neurological deteriorations starts either before or after the beginning of adolescence (type Ic and Id).Pubblicazioni consigliate
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