Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5080-5092, 2017 Dec.
Article
em En
| MEDLINE
| ID: mdl-28677066
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Tubulina (Proteína)
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Cerebelo
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Neuroimagem
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Mutação
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Malformações do Sistema Nervoso
Limite:
Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Middle aged
Idioma:
En
Revista:
Eur Radiol
Assunto da revista:
RADIOLOGIA
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Itália