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. 2023 Aug;38(8):1557-1558.
doi: 10.1002/mds.29559. Epub 2023 Aug 1.

As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort

Holger Hengel  1   2 , David Pellerin  3   4 , Carlo Wilke  1   2 , Zofia Fleszar  1   2 , Bernard Brais  4 , Tobias Haack  5   6 , Andreas Traschütz  1   2 , Ludger Schöls  1   2   6 , Matthis Synofzik  1   2
Affiliations

As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort

Holger Hengel et al. Mov Disord. 2023 Aug.
No abstract available

Keywords: SCA27B; autosomal dominant cerebellar ataxia; repeat expansion disorders.

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References

    1. Pellerin D, Danzi MC, Wilke C, et al. Deep Intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N Engl J Med 2023;388(2):128-141.
    1. Rafehi H, Read J, Szmulewicz DJ, et al. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. Am J Hum Genet 2023;110(1):105-119.
    1. Wilke C, Pellerin D, Mengel D, et al. GAA-FGF14 ataxia: phenotypic profile, natural history progression, and 4-aminopyridine treatment response. Brain: A Journal of Neurology 2023; Epub ahead of print.
    1. Saffie Awad P, Lohmann K, Hirmas Y, et al. Shaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a Chilean family. Movement Disorders 2023;38(6):1107-1109.
    1. Bonnet C, Pellerin D, Roth V, et al. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B. Sci Rep. 2023;13:9737.

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