ArticleEuropean radiology2019
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.
Article in European radiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 24 citations in OpenAlex.
- Review
- Clinical and neuroimaging findings in patients with lissencephaly/subcortical band heterotopia spectrum: a magnetic resonance conventional and diffusion tensor study.Neuroradiology · 2022Article
- Review
- A Complex Cortical Malformation Caused by a Mutation in the Tubulin-EncodingTaehan Yongsang Uihakhoe chi · 2020Article
- Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study.AJNR. American journal of neuroradiology · 2020Article
- Delineation of the nerve fiber bundles of the infant brain associated with aging using phase difference-enhanced imaging: a preliminary study.Japanese journal of radiology · 2020Article
- Pontocerebellar Hypoplasia: a Pattern Recognition Approach.Cerebellum (London, England) · 2020Article
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12 authors at 7 institutions in 3 countries.
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Abstract
objectivesTo 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).
methodsFifteen 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.
resultsFourteen 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).
conclusionsConventional/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.
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