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Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia.

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Title: Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia.
Authors: Iruzubieta, Pablo (AUTHOR), Pellerin, David (AUTHOR), Bergareche, Alberto (AUTHOR), Albajar, Inés (AUTHOR), Mondragón, Elisabet (AUTHOR), Vinagre, Ana (AUTHOR), Fernández‐Torrón, Roberto (AUTHOR), Moreno, Fermín (AUTHOR), Equiza, Jon (AUTHOR), Campo‐Caballero, David (AUTHOR), Poza, Juan José (AUTHOR), Ruibal, Marta (AUTHOR), Formica, Alessandro (AUTHOR), Dicaire, Marie‐Josée (AUTHOR), Danzi, Matt C. (AUTHOR), Zuchner, Stephan (AUTHOR), Croitoru, Ioana (AUTHOR), Ruiz, Montserrat (AUTHOR), Schlüter, Agatha (AUTHOR), Casasnovas, Carlos (AUTHOR)
Source: European Journal of Neurology. Dec2023, Vol. 30 Issue 12, p3828-3833. 6p.
Subjects: Spinocerebellar ataxia, Cerebellar ataxia, Cerebellum degeneration, Frequency spectra, Fibroblast growth factors, Genetic testing, Age of onset
Abstract: Background and purpose: Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene have recently been shown to cause spinocerebellar ataxia 27B (SCA27B). We aimed to study the frequency and phenotype of SCA27B in a cohort of patients with unsolved late‐onset cerebellar ataxia (LOCA). We also assessed the frequency of SCA27B relative to other genetically defined LOCAs. Methods: We recruited a consecutive series of 107 patients with LOCA, of whom 64 remained genetically undiagnosed. We screened these 64 patients for the FGF14 GAA repeat expansion. We next analysed the frequency of SCA27B relative to other genetically defined forms of LOCA in the cohort of 107 patients. Results: Eighteen of 64 patients (28%) carried an FGF14 (GAA)≥250 expansion. The median (range) age at onset was 62.5 (39–72) years. The most common clinical features included gait ataxia (100%) and mild cerebellar dysarthria (67%). In addition, episodic symptoms and downbeat nystagmus were present in 39% (7/18) and 37% (6/16) of patients, respectively. SCA27B was the most common cause of LOCA in our cohort (17%, 18/107). Among patients with genetically defined LOCA, SCA27B was the main cause of pure ataxia, RFC1‐related disease of ataxia with neuropathy, and SPG7 of ataxia with spasticity. Conclusion: We showed that SCA27B is the most common cause of LOCA in our cohort. Our results support the use of FGF14 GAA repeat expansion screening as a first‐tier genetic test in patients with LOCA. [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
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  Data: Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia.
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  Data: <searchLink fieldCode="AR" term="%22Iruzubieta%2C+Pablo%22">Iruzubieta, Pablo</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Pellerin%2C+David%22">Pellerin, David</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bergareche%2C+Alberto%22">Bergareche, Alberto</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Albajar%2C+Inés%22">Albajar, Inés</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mondragón%2C+Elisabet%22">Mondragón, Elisabet</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vinagre%2C+Ana%22">Vinagre, Ana</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fernández‐Torrón%2C+Roberto%22">Fernández‐Torrón, Roberto</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Moreno%2C+Fermín%22">Moreno, Fermín</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Equiza%2C+Jon%22">Equiza, Jon</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Campo‐Caballero%2C+David%22">Campo‐Caballero, David</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Poza%2C+Juan+José%22">Poza, Juan José</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ruibal%2C+Marta%22">Ruibal, Marta</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Formica%2C+Alessandro%22">Formica, Alessandro</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dicaire%2C+Marie‐Josée%22">Dicaire, Marie‐Josée</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Danzi%2C+Matt+C%2E%22">Danzi, Matt C.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zuchner%2C+Stephan%22">Zuchner, Stephan</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Croitoru%2C+Ioana%22">Croitoru, Ioana</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ruiz%2C+Montserrat%22">Ruiz, Montserrat</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Schlüter%2C+Agatha%22">Schlüter, Agatha</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Casasnovas%2C+Carlos%22">Casasnovas, Carlos</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Dec2023, Vol. 30 Issue 12, p3828-3833. 6p.
– Name: Subject
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  Data: <searchLink fieldCode="DE" term="%22Spinocerebellar+ataxia%22">Spinocerebellar ataxia</searchLink><br /><searchLink fieldCode="DE" term="%22Cerebellar+ataxia%22">Cerebellar ataxia</searchLink><br /><searchLink fieldCode="DE" term="%22Cerebellum+degeneration%22">Cerebellum degeneration</searchLink><br /><searchLink fieldCode="DE" term="%22Frequency+spectra%22">Frequency spectra</searchLink><br /><searchLink fieldCode="DE" term="%22Fibroblast+growth+factors%22">Fibroblast growth factors</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+testing%22">Genetic testing</searchLink><br /><searchLink fieldCode="DE" term="%22Age+of+onset%22">Age of onset</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background and purpose: Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene have recently been shown to cause spinocerebellar ataxia 27B (SCA27B). We aimed to study the frequency and phenotype of SCA27B in a cohort of patients with unsolved late‐onset cerebellar ataxia (LOCA). We also assessed the frequency of SCA27B relative to other genetically defined LOCAs. Methods: We recruited a consecutive series of 107 patients with LOCA, of whom 64 remained genetically undiagnosed. We screened these 64 patients for the FGF14 GAA repeat expansion. We next analysed the frequency of SCA27B relative to other genetically defined forms of LOCA in the cohort of 107 patients. Results: Eighteen of 64 patients (28%) carried an FGF14 (GAA)≥250 expansion. The median (range) age at onset was 62.5 (39–72) years. The most common clinical features included gait ataxia (100%) and mild cerebellar dysarthria (67%). In addition, episodic symptoms and downbeat nystagmus were present in 39% (7/18) and 37% (6/16) of patients, respectively. SCA27B was the most common cause of LOCA in our cohort (17%, 18/107). Among patients with genetically defined LOCA, SCA27B was the main cause of pure ataxia, RFC1‐related disease of ataxia with neuropathy, and SPG7 of ataxia with spasticity. Conclusion: We showed that SCA27B is the most common cause of LOCA in our cohort. Our results support the use of FGF14 GAA repeat expansion screening as a first‐tier genetic test in patients with LOCA. [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=173516191
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        Value: 10.1111/ene.16039
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        Text: English
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