View in EDS HTML Full Text PDF Full Text

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

Saved in:
Bibliographic Details
Title: Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
Authors: Prodi, E., Grisoli, M., Panzeri, M., Minati, L., Fattori, F., Erbetta, A., Uziel, G., D'Arrigo, S., Tessa, A., Ciano, C., Santorelli, F. M., Savoiardo, M., Mariotti, C.
Source: European Journal of Neurology. Jan2013, Vol. 20 Issue 1, p138-146. 9p. 2 Color Photographs, 2 Black and White Photographs, 2 Charts.
Subjects: Ataxia, Cerebellar ataxia, Spasticity, Diffusion tensor imaging, Magnetic resonance imaging, Genetics
Abstract: Background and purpose The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disorder caused by mutations in the SACS gene. The disease, first described in Canadian families from Québec, is characterized by cerebellar ataxia, pyramidal tract involvement and peripheral neuropathy. Methods Analysis of SACS gene allowed the identification of 14 patients with ARSACS from 13 unrelated Italian families. Clinical phenotype, gene mutations and magnetic resonance imaging (MRI) findings were analysed. Results We found 16 novel SACS gene mutations, including a large in-frame deletion. The age at onset was in infancy, but one patient presented the first symptoms at age 32. Progression of the disease was variable, and increased muscle tone was mostly recognized in later stages. Structural MRI showed atrophy of the superior cerebellar vermis, a bulky pons exhibiting T2-hypointense stripes, identified as the corticospinal tract (CST), thinning of the corpus callosum and a rim of T2-hyperintensity around the thalami in 100% of cases. The presence of iron or other paramagnetic substances was excluded. Diffusion tensor imaging (DTI) revealed grossly over-represented transverse pontine fibres (TPF), which prevented reconstruction of the CST at this level (100% of cases). In all patients, significant microstructural alterations were found in the supratentorial white matter of forceps, cingulum and superior longitudinal fasciculus. Conclusions Our findings further enlarge the genetic spectrum of SACS mutations and widen the study of clinical phenotype. MRI characteristics indicate that pontine changes and supratentorial abnormalities are diagnostic. The over-representation of TPF on DTI suggests a developmental component in the pathogenesis of the disease. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell 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: Psychology and Behavioral Sciences Collection
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: pbh
DbLabel: Psychology and Behavioral Sciences Collection
An: 84506462
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Prodi%2C+E%2E%22">Prodi, E.</searchLink><br /><searchLink fieldCode="AR" term="%22Grisoli%2C+M%2E%22">Grisoli, M.</searchLink><br /><searchLink fieldCode="AR" term="%22Panzeri%2C+M%2E%22">Panzeri, M.</searchLink><br /><searchLink fieldCode="AR" term="%22Minati%2C+L%2E%22">Minati, L.</searchLink><br /><searchLink fieldCode="AR" term="%22Fattori%2C+F%2E%22">Fattori, F.</searchLink><br /><searchLink fieldCode="AR" term="%22Erbetta%2C+A%2E%22">Erbetta, A.</searchLink><br /><searchLink fieldCode="AR" term="%22Uziel%2C+G%2E%22">Uziel, G.</searchLink><br /><searchLink fieldCode="AR" term="%22D'Arrigo%2C+S%2E%22">D'Arrigo, S.</searchLink><br /><searchLink fieldCode="AR" term="%22Tessa%2C+A%2E%22">Tessa, A.</searchLink><br /><searchLink fieldCode="AR" term="%22Ciano%2C+C%2E%22">Ciano, C.</searchLink><br /><searchLink fieldCode="AR" term="%22Santorelli%2C+F%2E+M%2E%22">Santorelli, F. M.</searchLink><br /><searchLink fieldCode="AR" term="%22Savoiardo%2C+M%2E%22">Savoiardo, M.</searchLink><br /><searchLink fieldCode="AR" term="%22Mariotti%2C+C%2E%22">Mariotti, C.</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Jan2013, Vol. 20 Issue 1, p138-146. 9p. 2 Color Photographs, 2 Black and White Photographs, 2 Charts.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Ataxia%22">Ataxia</searchLink><br /><searchLink fieldCode="DE" term="%22Cerebellar+ataxia%22">Cerebellar ataxia</searchLink><br /><searchLink fieldCode="DE" term="%22Spasticity%22">Spasticity</searchLink><br /><searchLink fieldCode="DE" term="%22Diffusion+tensor+imaging%22">Diffusion tensor imaging</searchLink><br /><searchLink fieldCode="DE" term="%22Magnetic+resonance+imaging%22">Magnetic resonance imaging</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background and purpose The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disorder caused by mutations in the SACS gene. The disease, first described in Canadian families from Québec, is characterized by cerebellar ataxia, pyramidal tract involvement and peripheral neuropathy. Methods Analysis of SACS gene allowed the identification of 14 patients with ARSACS from 13 unrelated Italian families. Clinical phenotype, gene mutations and magnetic resonance imaging (MRI) findings were analysed. Results We found 16 novel SACS gene mutations, including a large in-frame deletion. The age at onset was in infancy, but one patient presented the first symptoms at age 32. Progression of the disease was variable, and increased muscle tone was mostly recognized in later stages. Structural MRI showed atrophy of the superior cerebellar vermis, a bulky pons exhibiting T2-hypointense stripes, identified as the corticospinal tract (CST), thinning of the corpus callosum and a rim of T2-hyperintensity around the thalami in 100% of cases. The presence of iron or other paramagnetic substances was excluded. Diffusion tensor imaging (DTI) revealed grossly over-represented transverse pontine fibres (TPF), which prevented reconstruction of the CST at this level (100% of cases). In all patients, significant microstructural alterations were found in the supratentorial white matter of forceps, cingulum and superior longitudinal fasciculus. Conclusions Our findings further enlarge the genetic spectrum of SACS mutations and widen the study of clinical phenotype. MRI characteristics indicate that pontine changes and supratentorial abnormalities are diagnostic. The over-representation of TPF on DTI suggests a developmental component in the pathogenesis of the disease. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell 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=pbh&AN=84506462
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/j.1468-1331.2012.03815.x
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 9
        StartPage: 138
    Subjects:
      – SubjectFull: Ataxia
        Type: general
      – SubjectFull: Cerebellar ataxia
        Type: general
      – SubjectFull: Spasticity
        Type: general
      – SubjectFull: Diffusion tensor imaging
        Type: general
      – SubjectFull: Magnetic resonance imaging
        Type: general
      – SubjectFull: Genetics
        Type: general
    Titles:
      – TitleFull: Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Prodi, E.
      – PersonEntity:
          Name:
            NameFull: Grisoli, M.
      – PersonEntity:
          Name:
            NameFull: Panzeri, M.
      – PersonEntity:
          Name:
            NameFull: Minati, L.
      – PersonEntity:
          Name:
            NameFull: Fattori, F.
      – PersonEntity:
          Name:
            NameFull: Erbetta, A.
      – PersonEntity:
          Name:
            NameFull: Uziel, G.
      – PersonEntity:
          Name:
            NameFull: D'Arrigo, S.
      – PersonEntity:
          Name:
            NameFull: Tessa, A.
      – PersonEntity:
          Name:
            NameFull: Ciano, C.
      – PersonEntity:
          Name:
            NameFull: Santorelli, F. M.
      – PersonEntity:
          Name:
            NameFull: Savoiardo, M.
      – PersonEntity:
          Name:
            NameFull: Mariotti, C.
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: Jan2013
              Type: published
              Y: 2013
          Identifiers:
            – Type: issn-print
              Value: 13515101
          Numbering:
            – Type: volume
              Value: 20
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: European Journal of Neurology
              Type: main
ResultId 1