Home > Publications Database > Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. > print

001     267343
005     20240403131601.0
024 7 _ |a 10.1002/ctm2.1504
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037 _ _ |a DZNE-2024-00107
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Pellerin, David
|b 0
245 _ _ |a Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.
260 _ _ |a Hoboken, NJ
|c 2024
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520 _ _ |a 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.
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650 _ 7 |a 4-aminopyridine
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650 _ 7 |a FGF14
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650 _ 7 |a GAA-FGF14 ataxia
|2 Other
650 _ 7 |a cerebellar ataxia
|2 Other
650 _ 7 |a genetics
|2 Other
650 _ 7 |a repeat expansion disorder
|2 Other
650 _ 7 |a therapy
|2 Other
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Spinocerebellar Ataxias: diagnosis
|2 MeSH
650 _ 2 |a Spinocerebellar Ataxias: drug therapy
|2 MeSH
650 _ 2 |a Spinocerebellar Ataxias: genetics
|2 MeSH
650 _ 2 |a Ataxia: complications
|2 MeSH
650 _ 2 |a Phenotype
|2 MeSH
700 1 _ |a Danzi, Matt C
|b 1
700 1 _ |a Renaud, Mathilde
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700 1 _ |a Houlden, Henry
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700 1 _ |a Synofzik, Matthis
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700 1 _ |a Zuchner, Stephan
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700 1 _ |a Brais, Bernard
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773 _ _ |a 10.1002/ctm2.1504
|g Vol. 14, no. 1, p. e1504
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|t Clinical and translational medicine
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910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
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