ArticleActa neuropathologica communications2014
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
Article in Acta neuropathologica communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
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61 citing papers in PubMed, 1 synthesis or guideline pooled it, 130 citations in OpenAlex.
- Neuropathology of genetically defined malformations of cortical development-A systematic literature review.Neuropathology and applied neurobiology · 2021Pooled it
- Mutating different α-tubulin acetylation sites has distinct effects on axon terminal morphogenesis inMolecular biology of the cell · 2026Article
- Bridging the gap: an emerging link between tubulinopathies and ciliopathies.NPJ genomic medicine · 2026Review
- The Role of Prenatal Neurosonography in Identification of Tubulinopathy-Narrative Review.Life (Basel, Switzerland) · 2026Review
- Expanding the Clinical and Molecular Spectrum ofmedRxiv : the preprint server for health sciences · 2025Article
- Mutating different α-tubulin acetylation sites has distinct effects on axon terminal morphogenesis inbioRxiv : the preprint server for biology · 2025Article
- Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies.Biomolecules · 2025Review
- Case Report: A case of complex cortical dysplasia with central precocious puberty onset.Frontiers in pediatrics · 2025Article
- Prenatal assessment of brain malformations on neuroimaging: an expert panel review.Brain : a journal of neurology · 2024Review
- Review
- Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.The Journal of cell biology · 2024Review
- Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.Brain communications · 2024Review
- Structural insights into the mechanism of GTP initiation of microtubule assembly.Nature communications · 2023Article
- Deciphering the Tubulin Language: Molecular Determinants and Readout Mechanisms of the Tubulin Code in Neurons.International journal of molecular sciences · 2023Review
- How neurons maintain their axons long-term: an integrated view of axon biology and pathology.Frontiers in neuroscience · 2023Review
- The tubulin database: Linking mutations, modifications, ligands and local interactions.PloS one · 2023Article
- Case report: Structural brain abnormalities inFrontiers in pediatrics · 2023Article
- TUBB3 and KIF21A in neurodevelopment and disease.Frontiers in neuroscience · 2023Review
- MAPping tubulin mutations.Frontiers in cell and developmental biology · 2023Review
- Lissencephaly with Congenital Hypothyroidism: A Case Report.JNMA; journal of the Nepal Medical Association · 2022Article
1 more citing papers are in PubMed but not listed here.
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23 authors at 18 institutions in 6 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as "Tubulinopathies". To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) and TUBB3 (one case). Three subtypes clearly emerged. The most frequent (n = 13) was microlissencephaly with corpus callosum agenesis, severely hypoplastic brainstem and cerebellum. The cortical plate was either absent (6/13), with a 2-3 layered pattern (5/13) or less frequently thickened (2/13), often associated with neuroglial overmigration (4/13). All cases had voluminous germinal zones and ganglionic eminences. The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case). The third group was polymicrogyria-like cortical dysplasia (n = 6), consisting of asymmetric multifocal or generalized polymicrogyria with inconstant corpus callosum agenesis (4/6) and hypoplastic brainstem and cerebellum (3/6). Polymicrogyria was either unlayered or 4-layered with neuronal heterotopias (5/6) and occasional focal neuroglial overmigration (2/6). Three had TUBA1A mutations and 3 TUBB2B mutations. Foetal TUBA1A tubulinopathies most often consist in microlissencephaly or classical lissencephaly with corpus callosum agenesis, but polymicrogyria may also occur. Conversely, TUBB2B mutations are responsible for either polymicrogyria (4/6) or microlissencephaly (2/6).
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