Journal Article (Review Article)

DZNE-2024-00107

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.

Pellerin, D. ; Danzi, M. C. ; Renaud, M. ; Houlden, H. ; Synofzik, M.DZNE* ; Zuchner, S. ; Brais, B.

2024
Wiley Hoboken, NJ

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Please use a persistent id in citations: doi:10.1002/ctm2.1504

Abstract: Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. Currently, up to 75% of such patients remain without a genetic diagnosis. In an era of emerging disease-modifying gene-stratified therapies, the identification of causative alleles has become increasingly important. Over the past few years, the implementation of advanced bioinformatics tools and long-read sequencing has allowed the identification of a number of novel repeat expansion disorders, such as the recently described spinocerebellar ataxia 27B (SCA27B) caused by a (GAA)•(TTC) repeat expansion in intron 1 of the fibroblast growth factor 14 (FGF14) gene. SCA27B is rapidly gaining recognition as one of the most common forms of adult-onset hereditary ataxia, with several studies showing that it accounts for a substantial number (9-61%) of previously undiagnosed cases from different cohorts. First natural history studies and multiple reports have already outlined the progression and core phenotype of this novel disease, which consists of a late-onset slowly progressive pan-cerebellar syndrome that is frequently associated with cerebellar oculomotor signs, such as downbeat nystagmus, and episodic symptoms. Furthermore, preliminary studies in patients with SCA27B have shown promising symptomatic benefits of 4-aminopyridine, an already marketed drug. This review describes the current knowledge of the genetic and molecular basis, epidemiology, clinical features and prospective treatment strategies in SCA27B.

Keyword(s): Adult (MeSH) ; Humans (MeSH) ; Spinocerebellar Ataxias: diagnosis (MeSH) ; Spinocerebellar Ataxias: drug therapy (MeSH) ; Spinocerebellar Ataxias: genetics (MeSH) ; Ataxia: complications (MeSH) ; Phenotype (MeSH) ; 4-aminopyridine ; FGF14 ; GAA-FGF14 ataxia ; cerebellar ataxia ; genetics ; repeat expansion disorder ; therapy

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Contributing Institute(s):

1. Parkinson Genetics (AG Gasser)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2024

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