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Brain 18F-FDG PET findings and sequential vestibular testing in SCA27B: a case report

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References

  1. Pellerin D, Danzi MC, Wilke C et al (2023) Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N Engl J Med 388:128–141. https://doi.org/10.1056/NEJMoa2207406. (Epub 2022 Dec 14)

    Article  CAS  PubMed  Google Scholar 

  2. Rafehi H, Read J, Szmulewicz DJ et al (2023) An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. Am J Hum Genet 110:105–119. https://doi.org/10.1016/j.ajhg.2022.11.015. (Epub 2022 Dec 8. Erratum in: Am J Hum Genet. 2023;110(6):1018)

    Article  CAS  PubMed  Google Scholar 

  3. van Swieten JC, Brusse E, de Graaf BM et al (2003) A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. Am J Hum Genet 72:191–199. https://doi.org/10.1086/345488. (Epub 2002 Dec 13. Erratum in: Am J Hum Genet. 2003;72(4):1078)

    Article  PubMed  Google Scholar 

  4. Wilke C, Pellerin D, Mengel D et al (2023) GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain 2023:awad157. https://doi.org/10.1093/brain/awad157. (Epub ahead of print)

    Article  Google Scholar 

  5. Murshed KA, Ziylan T, Seker M, Cicekcibasi AE, Acikgozoglu S (2003) Morphometric assessment of brain stem and cerebellar vermis with midsagittal MRI: the gender differences and effects of age. Neuroanatomy 2:35–38

    Google Scholar 

  6. Strupp M, Maul S, Konte B et al (2020) A variation in FGF14 Is associated with downbeat nystagmus in a genome-wide association study. Cerebellum 19:348–357. https://doi.org/10.1007/s12311-020-01113-x

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Cortese A, Simone R, Sullivan R et al (2019) Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet 51(4):649–658. https://doi.org/10.1038/s41588-019-0372-4. (Epub 2019 Mar 29. Erratum in: Nat Genet. 2019;51(5):920)

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Tran TM, Lee MS, McClelland CM (2021) Downbeat nystagmus: a clinical review of diagnosis and management. Curr Opin Ophthalmol 32(6):504–514. https://doi.org/10.1097/ICU.0000000000000802

    Article  PubMed  Google Scholar 

  9. Manto M, Bower JM, Conforto AB et al (2012) Consensus paper: roles of the cerebellum in motor control–the diversity of ideas on cerebellar involvement in movement. Cerebellum 11:457–487. https://doi.org/10.1007/s12311-011-0331-9

    Article  PubMed  PubMed Central  Google Scholar 

  10. Gilman S, Adams K, Koeppe RA et al (1990) Cerebellar and frontal hypometabolism in alcoholic cerebellar degeneration studied with positron emission tomography. Ann Neurol 28(6):775–785. https://doi.org/10.1002/ana.410280608

    Article  CAS  PubMed  Google Scholar 

  11. Wang PS, Liu RS, Yang BH, Soong BW (2007) Regional patterns of cerebral glucose metabolism in spinocerebellar ataxia type 2, 3 and 6: a voxel-based FDG-positron emission tomography analysis. J Neurol 254:838–845. https://doi.org/10.1007/s00415-006-0383-9

    Article  PubMed  Google Scholar 

  12. Torvik A, Torp S, Lindboe CF (1986) Atrophy of the cerebellar vermis in ageing. A morphometric and histologic study. J Neurol Sci 76:283–294

    Article  CAS  PubMed  Google Scholar 

  13. Varangot-Reille C, Herranz-Gomez A, de la Nava J, Suso-Martí L, Cuenca-Martínez F (2022) The experience of vertigo: a systematic review of neuroimaging studies. Brain Imaging Behav 16:2797–2808. https://doi.org/10.1007/s11682-022-00729-3

    Article  PubMed  Google Scholar 

  14. Schüle R, Timmann D, Erasmus CE et al (2021) Solving unsolved rare neurological diseases-a Solve-RD viewpoint. Eur J Hum Genet 29(9):1332–1336. https://doi.org/10.1038/s41431-021-00901-1. (Epub 2021 May 10. Erratum in: Eur J Hum Genet. 2021)

    Article  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, Clínica Universidad de Navarra, C/ Marquesado de Sta. Marta, 1, 28027, Madrid, Spain

    Adolfo Jiménez-Huete & Antonio Martin-Bastida

  2. Department of Pediatrics and Medical Genetics Unit, Clínica Universidad de Navarra, Pamplona, Madrid, Spain

    Ana Patiño-García

  3. Department of Nuclear Medicine, Clínica Universidad de Navarra, Pamplona, Madrid, Spain

    Edgar Fernando Guillén

  4. Genologica Genetic Analysis Lab, Málaga, Spain

    José María Porta

  5. Department of Radiology, Clínica Universidad de Navarra, Pamplona, Madrid, Spain

    Víctor Suárez-Vega

  6. Department of Otolaryngology, Clínica Universidad de Navarra, Pamplona, Madrid, Spain

    Nicolás Pérez

Authors
  1. Adolfo Jiménez-Huete
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  2. Ana Patiño-García
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  3. Edgar Fernando Guillén
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  4. José María Porta
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  5. Antonio Martin-Bastida
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  6. Víctor Suárez-Vega
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  7. Nicolás Pérez
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Corresponding author

Correspondence to Adolfo Jiménez-Huete.

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On behalf of all authors, the corresponding author states that there is no conflict of interest.

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The study was performed according to the guidelines of the Declaration of Helsinki. Written consent for publication was obtained from the patient.

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Jiménez-Huete, A., Patiño-García, A., Guillén, E.F. et al. Brain 18F-FDG PET findings and sequential vestibular testing in SCA27B: a case report. J Neurol 271, 1015–1018 (2024). https://doi.org/10.1007/s00415-023-12032-2

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  • DOI: https://doi.org/10.1007/s00415-023-12032-2

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