Romaniello, Romina and Arrigoni, Filippo and Panzeri, Elena and Poretti, Andrea and Micalizzi, Alessia and Citterio, Andrea and Bedeschi, Maria Francesca and Berardinelli, Angela and Cusmai, Margherita and D'Arrigo, Stefano and Ferraris, Alessandro and Hackenberg, Annette and Kuechler, Alma and Mancardi, Margherita and Nuovo, Sara and Oehl-Jaschkowitz, Barbara and Rossi, Andrea and Signorini, Sabrina and Tuettelmann, Frank and Wahl, Dagmar and Hehr, Ute and Boltshauser, Eugen and Bassi, Maria Teresa and Valente, Enza Maria and Borgatti, Renato (2017) Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. EUROPEAN RADIOLOGY, 27 (12). pp. 5080-5092. ISSN 0938-7994, 1432-1084
Full text not available from this repository. (Request a copy)Abstract
To 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. Twenty-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. Cerebellar 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. The 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. aEuro cent Cortical cerebellar dysplasia without cysts is suggestive of tubulin-related disorder. aEuro cent Cerebellar dysplasia in tubulinopathies shows specific features labelled as 'tubulin-related CD'. aEuro cent Focal and unilateral involvement of cerebellar hemispheres has important implications for counselling.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ASYMMETRICAL POLYMICROGYRIA; MICROTUBULE DYNAMICS; CORTICAL DEVELOPMENT; BRAIN MALFORMATIONS; NEURONAL MIGRATION; WIDE SPECTRUM; AXON GUIDANCE; MUTATIONS; TUBB2B; ALPHA; Tubulin genes; Cerebellum; Dysplasia; Mutation; Neuroimaging |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 14 Dec 2018 13:19 |
| Last Modified: | 19 Feb 2019 07:54 |
| URI: | https://pred.uni-regensburg.de/id/eprint/1809 |
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