ArticleEuropean radiology2017
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Article in European radiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 43 citations in OpenAlex.
- Article
- Fetal imaging of posterior fossa malformations.Pediatric radiology · 2025Review
- Prenatal Diagnosis of Cerebellar Cortical Dysplasia: Case Report.Cerebellum (London, England) · 2024Article
- Lissencephaly caused by aFrontiers in pediatrics · 2024Article
- Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.Molecular neurobiology · 2023Review
- The tubulin database: Linking mutations, modifications, ligands and local interactions.PloS one · 2023Article
- TUBB3 and KIF21A in neurodevelopment and disease.Frontiers in neuroscience · 2023Review
- Case report: Structural brain abnormalities inFrontiers in pediatrics · 2023Article
- Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders.Orphanet journal of rare diseases · 2022Article
- Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.Prenatal diagnosis · 2022Review
- Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management.Children (Basel, Switzerland) · 2022Review
- Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.PLoS computational biology · 2022Article
- Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.European journal of human genetics : EJHG · 2022Article
- Diagnostic Approach to Cerebellar Hypoplasia.Cerebellum (London, England) · 2021Review
- Cerebellar dysplasia related to PIK3CA mutation: a three-case series.Neurogenetics · 2021Article
- Blake's Pouch Cysts and Differential Diagnoses in Prenatal and Postnatal MRI : A Pictorial Review.Clinical neuroradiology · 2020Review
- Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.Brain : a journal of neurology · 2019Article
- Review
- Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings.Orphanet journal of rare diseases · 2019Article
- The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.Orphanet journal of rare diseases · 2019Review
Corrections and comments
- Erratum issued
Authors and funding
25 authors at 15 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo 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.
methodsTwenty-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.
resultsCerebellar 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.
conclusionsThe 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.