View in EDS HTML Full Text PDF Full Text

The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.

Saved in:
Bibliographic Details
Title: The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.
Authors: Arrigoni, Filippo1 filippo.arrigoni@lanostrafamiglia.it, Romaniello, Romina2, Peruzzo, Denis1, Poretti, Andrea3, Bassi, Maria Teresa4, Pierpaoli, Carlo5, Valente, Enza Maria6,7, Nuovo, Sara7,8, Boltshauser, Eugen9, Huisman, Thierry André Gerard Marie3, Triulzi, Fabio10, Borgatti, Renato2
Source: European Radiology. Feb2019, Vol. 29 Issue 2, p770-782. 13p. 2 Color Photographs, 2 Black and White Photographs, 4 Charts.
Subjects: Magnetic resonance imaging, Brain imaging, Human abnormalities, Computed tomography, Genetic mutation, Tubulins
Abstract: Objectives: To describe the spectrum of brainstem malformations associated to mutations in the tubulin genes taking advantage of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI).Methods: Fifteen patients (six males; median age, 1.25 years; range, 1 month to 31 years) with mutations in the tubulin genes (TUBA1A = 8, TUBB2B = 4, TUBB3 = 3) studied with MRI and DTI were included in the study. Brain MR exams were reviewed to describe the malformative aspects of the brainstem. Malformations of the supratentorial brain and cerebellum were also recorded. Tractography was performed in seven selected cases.Results: Fourteen patients (93%) showed complex malformations of the brainstem. Most common findings, apparent on anatomical MR sequences, were brainstem asymmetry (12 cases, 5 of which with a crossed pattern characterised by a hypertrophic right medulla oblongata and hypertrophic left pons), short and small pons on midline (10 cases) and anterior brainstem clefting (6 cases). DTI revealed abnormal transverse pontine fibres (13 cases), fusion of corticospinal tracts and medial lemnisci (9 cases) and a small decussation of the superior cerebellar peduncles (7 cases).Conclusions: Conventional/anatomical MRI and DTI reveal a complex pattern of brainstem malformations associated with tubulin genes mutations.Key Points: • Brainstem malformations affect 93% patients with mutated tubulin genes • MRI shows homolateral and crossed brainstem asymmetries, clefts and pons hypoplasia • DTI demonstrates irregular representation of transverse pontine fibres and fusion of corticospinal tracts. [ABSTRACT FROM AUTHOR]
Copyright of European Radiology is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Engineering Source
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: egs
DbLabel: Engineering Source
An: 133695314
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Arrigoni%2C+Filippo%22">Arrigoni, Filippo</searchLink><relatesTo>1</relatesTo><i> filippo.arrigoni@lanostrafamiglia.it</i><br /><searchLink fieldCode="AR" term="%22Romaniello%2C+Romina%22">Romaniello, Romina</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Peruzzo%2C+Denis%22">Peruzzo, Denis</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Poretti%2C+Andrea%22">Poretti, Andrea</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Bassi%2C+Maria+Teresa%22">Bassi, Maria Teresa</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AR" term="%22Pierpaoli%2C+Carlo%22">Pierpaoli, Carlo</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AR" term="%22Valente%2C+Enza+Maria%22">Valente, Enza Maria</searchLink><relatesTo>6,7</relatesTo><br /><searchLink fieldCode="AR" term="%22Nuovo%2C+Sara%22">Nuovo, Sara</searchLink><relatesTo>7,8</relatesTo><br /><searchLink fieldCode="AR" term="%22Boltshauser%2C+Eugen%22">Boltshauser, Eugen</searchLink><relatesTo>9</relatesTo><br /><searchLink fieldCode="AR" term="%22Huisman%2C+Thierry+André+Gerard+Marie%22">Huisman, Thierry André Gerard Marie</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Triulzi%2C+Fabio%22">Triulzi, Fabio</searchLink><relatesTo>10</relatesTo><br /><searchLink fieldCode="AR" term="%22Borgatti%2C+Renato%22">Borgatti, Renato</searchLink><relatesTo>2</relatesTo>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22European+Radiology%22">European Radiology</searchLink>. Feb2019, Vol. 29 Issue 2, p770-782. 13p. 2 Color Photographs, 2 Black and White Photographs, 4 Charts.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Magnetic+resonance+imaging%22">Magnetic resonance imaging</searchLink><br /><searchLink fieldCode="DE" term="%22Brain+imaging%22">Brain imaging</searchLink><br /><searchLink fieldCode="DE" term="%22Human+abnormalities%22">Human abnormalities</searchLink><br /><searchLink fieldCode="DE" term="%22Computed+tomography%22">Computed tomography</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Tubulins%22">Tubulins</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: <bold>Objectives: </bold>To describe the spectrum of brainstem malformations associated to mutations in the tubulin genes taking advantage of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI).<bold>Methods: </bold>Fifteen patients (six males; median age, 1.25 years; range, 1 month to 31 years) with mutations in the tubulin genes (TUBA1A = 8, TUBB2B = 4, TUBB3 = 3) studied with MRI and DTI were included in the study. Brain MR exams were reviewed to describe the malformative aspects of the brainstem. Malformations of the supratentorial brain and cerebellum were also recorded. Tractography was performed in seven selected cases.<bold>Results: </bold>Fourteen patients (93%) showed complex malformations of the brainstem. Most common findings, apparent on anatomical MR sequences, were brainstem asymmetry (12 cases, 5 of which with a crossed pattern characterised by a hypertrophic right medulla oblongata and hypertrophic left pons), short and small pons on midline (10 cases) and anterior brainstem clefting (6 cases). DTI revealed abnormal transverse pontine fibres (13 cases), fusion of corticospinal tracts and medial lemnisci (9 cases) and a small decussation of the superior cerebellar peduncles (7 cases).<bold>Conclusions: </bold>Conventional/anatomical MRI and DTI reveal a complex pattern of brainstem malformations associated with tubulin genes mutations.<bold>Key Points: </bold>• Brainstem malformations affect 93% patients with mutated tubulin genes • MRI shows homolateral and crossed brainstem asymmetries, clefts and pons hypoplasia • DTI demonstrates irregular representation of transverse pontine fibres and fusion of corticospinal tracts. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of European Radiology is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=egs&AN=133695314
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1007/s00330-018-5610-0
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 13
        StartPage: 770
    Subjects:
      – SubjectFull: Magnetic resonance imaging
        Type: general
      – SubjectFull: Brain imaging
        Type: general
      – SubjectFull: Human abnormalities
        Type: general
      – SubjectFull: Computed tomography
        Type: general
      – SubjectFull: Genetic mutation
        Type: general
      – SubjectFull: Tubulins
        Type: general
    Titles:
      – TitleFull: The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Arrigoni, Filippo
      – PersonEntity:
          Name:
            NameFull: Romaniello, Romina
      – PersonEntity:
          Name:
            NameFull: Peruzzo, Denis
      – PersonEntity:
          Name:
            NameFull: Poretti, Andrea
      – PersonEntity:
          Name:
            NameFull: Bassi, Maria Teresa
      – PersonEntity:
          Name:
            NameFull: Pierpaoli, Carlo
      – PersonEntity:
          Name:
            NameFull: Valente, Enza Maria
      – PersonEntity:
          Name:
            NameFull: Nuovo, Sara
      – PersonEntity:
          Name:
            NameFull: Boltshauser, Eugen
      – PersonEntity:
          Name:
            NameFull: Huisman, Thierry André Gerard Marie
      – PersonEntity:
          Name:
            NameFull: Triulzi, Fabio
      – PersonEntity:
          Name:
            NameFull: Borgatti, Renato
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 02
              Text: Feb2019
              Type: published
              Y: 2019
          Identifiers:
            – Type: issn-print
              Value: 09387994
          Numbering:
            – Type: volume
              Value: 29
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: European Radiology
              Type: main
ResultId 1