Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy

Infantile neuronal axonal dystrophy (INAD) is characterized by progressive cerebellar atrophy. MRI has been recommended as a marker of disease progression in cerebellar diseases. We performed a longitudinal brain volumetry study in a couple of bicorial twins with PLA2G6 -positive INAD. Brain volumet...

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Veröffentlicht in:	Cerebellum (London, England) England), 2017-06, Vol.16 (3), p.742-745
Hauptverfasser:	Mascalchi, Mario, Mari, Francesco, Berti, Beatrice, Bartolini, Emanuele, Lenge, Matteo, Bianchi, Andrea, Antonucci, Laura, Santorelli, Filippo M., Garavaglia, Barbara, Guerrini, Renzo
Format:	Artikel
Sprache:	eng
Schlagworte:	Atrophy Axons - pathology Biomedical and Life Sciences Biomedicine Cerebellar Diseases - pathology Cerebellum Child, Preschool Children Cortex (frontal) Disease Progression Dystrophy Female Group VI Phospholipases A2 - genetics Humans INAD protein Infant Magnetic resonance imaging Magnetic Resonance Imaging - methods Male Morphometry Neuroaxonal Dystrophies - diagnosis Neuroaxonal Dystrophies - genetics Neurobiology Neurology Neurosciences Occipital lobe Pons Short Report Thalamus Twins Visual cortex Visual pathways
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