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04.07.2017 | Neuro

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

verfasst von: Romina Romaniello, Filippo Arrigoni, Elena Panzeri, Andrea Poretti, Alessia Micalizzi, Andrea Citterio, Maria Francesca Bedeschi, Angela Berardinelli, Raffaella Cusmai, Stefano D’Arrigo, Alessandro Ferraris, Annette Hackenberg, Alma Kuechler, Margherita Mancardi, Sara Nuovo, Barbara Oehl-Jaschkowitz, Andrea Rossi, Sabrina Signorini, Frank Tüttelmann, Dagmar Wahl, Ute Hehr, Eugen Boltshauser, Maria Teresa Bassi, Enza Maria Valente, Renato Borgatti

Erschienen in: European Radiology | Ausgabe 12/2017

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Abstract

Objective

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.

Methods

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.

Results

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.

Conclusions

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.

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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Titel: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
verfasst von: Romina Romaniello
Filippo Arrigoni
Elena Panzeri
Andrea Poretti
Alessia Micalizzi
Andrea Citterio
Maria Francesca Bedeschi
Angela Berardinelli
Raffaella Cusmai
Stefano D’Arrigo
Alessandro Ferraris
Annette Hackenberg
Alma Kuechler
Margherita Mancardi
Sara Nuovo
Barbara Oehl-Jaschkowitz
Andrea Rossi
Sabrina Signorini
Frank Tüttelmann
Dagmar Wahl
Ute Hehr
Eugen Boltshauser
Maria Teresa Bassi
Enza Maria Valente
Renato Borgatti
Publikationsdatum: 04.07.2017
Verlag: Springer Berlin Heidelberg
Erschienen in: European Radiology / Ausgabe 12/2017
Print ISSN: 0938-7994
Elektronische ISSN: 1432-1084
DOI: https://doi.org/10.1007/s00330-017-4945-2

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Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Abstract

Objective

Methods

Results

Conclusions

Key Points

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Abstract

Objective

Methods

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