Tubulinopathies: MRI features
Evidence-based neurology checklist on tubulinopathies: mri features: Brainstem features Brainstem asymmetry Hypertrophic or small brainstem Anterior brainstem clefts Cerebellar features Other features Diffusion tensor imaging (DTI): features
Brainstem features
- Brainstem asymmetry
- Hypertrophic or small brainstem
- Anterior brainstem clefts
Cerebellar features
Other features
Diffusion tensor imaging (DTI): features
References
- Romaniello R, Arrigoni F, Cavallini A, et al. Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases. Dev Med Child Neurol 2014; 56:354-360.
- Arrigoni F, Romaniello R, Peruzzo D, et al. The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis. Eur Radiol 2018; doi: 10.1007/s00330-018-5610-0 (Epub ahead of print).
- Romaniello R, Arrigoni F, Panzeri E, et al. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. Eur Radiol 2017; 27:5080-5092.
- Myers KA, Bello-Espinosa LE, Kherani A, Wei XC, Innes AM. TUBA1A mutation associated with eye abnormalities in addition to brain malformation. Pediatr Neurol 2015; 53:442-444.
