The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis

Filippo Arrigoni, Romina Romaniello, Denis Peruzzo, Andrea Poretti, Maria Teresa Bassi, Carlo Pierpaoli, Enza Maria Valente, Sara Nuovo, Eugen Boltshauser, Thierry André Gerard Marie Huisman, Fabio Triulzi, Renato Borgatti

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Objectives: To describe the spectrum of brainstem malformations associated to mutations in the tubulin genes taking advantage of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI). Methods: Fifteen patients (six males; median age, 1.25 years; range, 1 month to 31 years) with mutations in the tubulin genes (TUBA1A = 8, TUBB2B = 4, TUBB3 = 3) studied with MRI and DTI were included in the study. Brain MR exams were reviewed to describe the malformative aspects of the brainstem. Malformations of the supratentorial brain and cerebellum were also recorded. Tractography was performed in seven selected cases. Results: Fourteen patients (93%) showed complex malformations of the brainstem. Most common findings, apparent on anatomical MR sequences, were brainstem asymmetry (12 cases, 5 of which with a crossed pattern characterised by a hypertrophic right medulla oblongata and hypertrophic left pons), short and small pons on midline (10 cases) and anterior brainstem clefting (6 cases). DTI revealed abnormal transverse pontine fibres (13 cases), fusion of corticospinal tracts and medial lemnisci (9 cases) and a small decussation of the superior cerebellar peduncles (7 cases). Conclusions: Conventional/anatomical MRI and DTI reveal a complex pattern of brainstem malformations associated with tubulin genes mutations. Key Points: • Brainstem malformations affect 93% patients with mutated tubulin genes • MRI shows homolateral and crossed brainstem asymmetries, clefts and pons hypoplasia • DTI demonstrates irregular representation of transverse pontine fibres and fusion of corticospinal tracts.

Original languageEnglish (US)
Pages (from-to)770-782
Number of pages13
JournalEuropean radiology
Issue number2
StatePublished - Feb 1 2019
Externally publishedYes


  • Brain stem
  • Diffusion tensor imaging
  • Nervous system malformations
  • Neurological rehabilitation
  • Tubulin

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging


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