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Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Romaniello, Romina ; Arrigoni, Filippo ; Panzeri, Elena ; Poretti, Andrea ; Micalizzi, Alessia ; Citterio, Andrea ; Bedeschi, Maria Francesca ; Berardinelli, Angela ; Cusmai, Raffaella ; D’Arrigo, Stefano ; Ferraris, Alessandro ; Hackenberg, Annette ; Kuechler, Alma ; Mancardi, Margherita ; Nuovo, Sara ; Oehl-Jaschkowitz, Barbara ; Rossi, Andrea ; Signorini, Sabrina ; Tüttelmann, Frank ; Wahl, Dagmar ; Hehr, Ute ; Boltshauser, Eugen ; Bassi, Maria Teresa ; Valente, Enza Maria ; Borgatti, Renato



Abstract

To determine the neuroimaging pattern of cerebellar dysplasia (CD) and other posterior fossa morphological anomalies associated with mutations in tubulin genes and to perform clinical and genetic correlations. Twenty-eight patients harbouring 23 heterozygous pathogenic variants (ten novel) in tubulin genes TUBA1A (n = 10), TUBB2B (n = 8) or TUBB3 (n = 5) were studied by a brain MRI scan performed ...

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