View in EDS HTML Full Text PDF Full Text

Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.

Saved in:
Bibliographic Details
Title: Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.
Authors: Fontanesi, D. (AUTHOR), Di Rauso, Giulia (AUTHOR), Cavallieri, F. (AUTHOR), Fioravanti, V. (AUTHOR), Monfrini, E. (AUTHOR), Rossi, J. (AUTHOR), Toschi, G. (AUTHOR), Sabadini, R. (AUTHOR), Montepietra, S. (AUTHOR), Merlo, A. (AUTHOR), Campanini, I. (AUTHOR), Cavazzuti, L. (AUTHOR), Di Fonzo, A. (AUTHOR), Valzania, F. (AUTHOR)
Source: Neurological Sciences. Aug2025, Vol. 46 Issue 8, p4007-4009. 3p.
Subjects: Evoked potentials (Electrophysiology), Medical sciences, Pyramidal tract, Clubfoot, Achilles tendon
Abstract: Background: Dopa-responsive dystonia (DRD) is a group of rare forms of genetically determined dystonia. Large improvements of symptoms can be seen with small doses of levodopa. As a treatable condition, it must be diagnosed and treated to improve the patients' functional outcome and quality of life. Case presentation: We describe the case of a woman affected by progressive gait impairment and lower limb rigidity, started at the age of 15. For talipes equinovarus (clubfoot), she underwent Achilles tendon lengthening and anterior tibial haemitendon transposition surgery. Family history collection revealed that her mother had been diagnosed with spastic paraparesis in adolescence. Clinical phenotype and family history suggested a diagnosis of hereditary spastic paraparesis (HSP), supported by a mild involvement of the pyramidal tract in lower limbs at the motor evoked potential. Clinical evaluation revealed the presence of mild signs of dystonia, as a foot and cervical dystonia and upper limbs dystonic tremor. Indeed, a virtual panel for dystonia genes showed a pathogenic splice-site variant in GCH1. The patient was diagnosed with DRD and low doses of levodopa were started with clinical improvement of both gait and dystonia. Conclusion: We describe the clinical history of a patient with dopa responsive dystonia, which was initially diagnosed with HSP. Misdiagnosis can result in a significant delay in diagnosis and treatment initiation, so it is of the utmost importance to identify these patients without delay, looking for the presence of soft dystonia signs and performing an empirical trial with low doses of levodopa. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences 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: 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: 186678195
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Fontanesi%2C+D%2E%22">Fontanesi, D.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Di+Rauso%2C+Giulia%22">Di Rauso, Giulia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cavallieri%2C+F%2E%22">Cavallieri, F.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fioravanti%2C+V%2E%22">Fioravanti, V.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Monfrini%2C+E%2E%22">Monfrini, E.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rossi%2C+J%2E%22">Rossi, J.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Toschi%2C+G%2E%22">Toschi, G.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sabadini%2C+R%2E%22">Sabadini, R.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Montepietra%2C+S%2E%22">Montepietra, S.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Merlo%2C+A%2E%22">Merlo, A.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Campanini%2C+I%2E%22">Campanini, I.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cavazzuti%2C+L%2E%22">Cavazzuti, L.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Di+Fonzo%2C+A%2E%22">Di Fonzo, A.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Valzania%2C+F%2E%22">Valzania, F.</searchLink> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Aug2025, Vol. 46 Issue 8, p4007-4009. 3p.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Evoked+potentials+%28Electrophysiology%29%22">Evoked potentials (Electrophysiology)</searchLink><br /><searchLink fieldCode="DE" term="%22Medical+sciences%22">Medical sciences</searchLink><br /><searchLink fieldCode="DE" term="%22Pyramidal+tract%22">Pyramidal tract</searchLink><br /><searchLink fieldCode="DE" term="%22Clubfoot%22">Clubfoot</searchLink><br /><searchLink fieldCode="DE" term="%22Achilles+tendon%22">Achilles tendon</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: Dopa-responsive dystonia (DRD) is a group of rare forms of genetically determined dystonia. Large improvements of symptoms can be seen with small doses of levodopa. As a treatable condition, it must be diagnosed and treated to improve the patients' functional outcome and quality of life. Case presentation: We describe the case of a woman affected by progressive gait impairment and lower limb rigidity, started at the age of 15. For talipes equinovarus (clubfoot), she underwent Achilles tendon lengthening and anterior tibial haemitendon transposition surgery. Family history collection revealed that her mother had been diagnosed with spastic paraparesis in adolescence. Clinical phenotype and family history suggested a diagnosis of hereditary spastic paraparesis (HSP), supported by a mild involvement of the pyramidal tract in lower limbs at the motor evoked potential. Clinical evaluation revealed the presence of mild signs of dystonia, as a foot and cervical dystonia and upper limbs dystonic tremor. Indeed, a virtual panel for dystonia genes showed a pathogenic splice-site variant in GCH1. The patient was diagnosed with DRD and low doses of levodopa were started with clinical improvement of both gait and dystonia. Conclusion: We describe the clinical history of a patient with dopa responsive dystonia, which was initially diagnosed with HSP. Misdiagnosis can result in a significant delay in diagnosis and treatment initiation, so it is of the utmost importance to identify these patients without delay, looking for the presence of soft dystonia signs and performing an empirical trial with low doses of levodopa. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Neurological Sciences 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=pbh&AN=186678195
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1007/s10072-025-08079-w
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 3
        StartPage: 4007
    Subjects:
      – SubjectFull: Evoked potentials (Electrophysiology)
        Type: general
      – SubjectFull: Medical sciences
        Type: general
      – SubjectFull: Pyramidal tract
        Type: general
      – SubjectFull: Clubfoot
        Type: general
      – SubjectFull: Achilles tendon
        Type: general
    Titles:
      – TitleFull: Dopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Fontanesi, D.
      – PersonEntity:
          Name:
            NameFull: Di Rauso, Giulia
      – PersonEntity:
          Name:
            NameFull: Cavallieri, F.
      – PersonEntity:
          Name:
            NameFull: Fioravanti, V.
      – PersonEntity:
          Name:
            NameFull: Monfrini, E.
      – PersonEntity:
          Name:
            NameFull: Rossi, J.
      – PersonEntity:
          Name:
            NameFull: Toschi, G.
      – PersonEntity:
          Name:
            NameFull: Sabadini, R.
      – PersonEntity:
          Name:
            NameFull: Montepietra, S.
      – PersonEntity:
          Name:
            NameFull: Merlo, A.
      – PersonEntity:
          Name:
            NameFull: Campanini, I.
      – PersonEntity:
          Name:
            NameFull: Cavazzuti, L.
      – PersonEntity:
          Name:
            NameFull: Di Fonzo, A.
      – PersonEntity:
          Name:
            NameFull: Valzania, F.
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 08
              Text: Aug2025
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 15901874
          Numbering:
            – Type: volume
              Value: 46
            – Type: issue
              Value: 8
          Titles:
            – TitleFull: Neurological Sciences
              Type: main
ResultId 1