Brain 18F-FDG PET findings and sequential vestibular testing in SCA27B: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s00415-023-12032-2.pdf
Reference14 articles.
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)
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)
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)
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)
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
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