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

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

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Objective: 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. Methods: 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 either on a 1.5 T (n = 10) or 3 T (n = 18) MR scanner with focus on the posterior fossa. Results: Cerebellar anomalies were detected in 24/28 patients (86%). CD was recognised in 19/28 (68%) including cortical cerebellar dysplasia (CCD) in 18/28, either involving only the cerebellar hemispheres (12/28) or associated with vermis dysplasia (6/28). CCD was located only in the right hemisphere in 13/18 (72%), including four TUBB2B-, four TUBB3- and five TUBA1A-mutated patients, while in the other five TUBA1A cases it was located only in the left hemisphere or in both hemispheres. The postero-superior region of the cerebellar hemispheres was most frequently affected. Conclusions: The cerebellar involvement in tubulinopathies shows specific features that may be labelled as ‘tubulin-related CD’. This pattern is unique and differs from other genetic causes of cerebellar dysplasia. Key Points: • Cortical cerebellar dysplasia without cysts is suggestive of tubulin-related disorder. • Cerebellar dysplasia in tubulinopathies shows specific features labelled as ‘tubulin-related CD’. • Focal and unilateral involvement of cerebellar hemispheres has important implications for counselling.

Original languageEnglish (US)
Pages (from-to)5080-5092
Number of pages13
JournalEuropean radiology
Issue number12
StatePublished - Dec 1 2017


  • Cerebellum
  • Dysplasia
  • Mutation
  • Neuroimaging
  • Tubulin genes

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging


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