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000267343 1001_ $$aPellerin, David$$b0
000267343 245__ $$aSpinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.
000267343 260__ $$aHoboken, NJ$$bWiley$$c2024
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000267343 520__ $$aHereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. Currently, up to 75% of such patients remain without a genetic diagnosis. In an era of emerging disease-modifying gene-stratified therapies, the identification of causative alleles has become increasingly important. Over the past few years, the implementation of advanced bioinformatics tools and long-read sequencing has allowed the identification of a number of novel repeat expansion disorders, such as the recently described spinocerebellar ataxia 27B (SCA27B) caused by a (GAA)•(TTC) repeat expansion in intron 1 of the fibroblast growth factor 14 (FGF14) gene. SCA27B is rapidly gaining recognition as one of the most common forms of adult-onset hereditary ataxia, with several studies showing that it accounts for a substantial number (9-61%) of previously undiagnosed cases from different cohorts. First natural history studies and multiple reports have already outlined the progression and core phenotype of this novel disease, which consists of a late-onset slowly progressive pan-cerebellar syndrome that is frequently associated with cerebellar oculomotor signs, such as downbeat nystagmus, and episodic symptoms. Furthermore, preliminary studies in patients with SCA27B have shown promising symptomatic benefits of 4-aminopyridine, an already marketed drug. This review describes the current knowledge of the genetic and molecular basis, epidemiology, clinical features and prospective treatment strategies in SCA27B.
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000267343 650_7 $$2Other$$a4-aminopyridine
000267343 650_7 $$2Other$$aFGF14
000267343 650_7 $$2Other$$aGAA-FGF14 ataxia
000267343 650_7 $$2Other$$acerebellar ataxia
000267343 650_7 $$2Other$$agenetics
000267343 650_7 $$2Other$$arepeat expansion disorder
000267343 650_7 $$2Other$$atherapy
000267343 650_2 $$2MeSH$$aAdult
000267343 650_2 $$2MeSH$$aHumans
000267343 650_2 $$2MeSH$$aSpinocerebellar Ataxias: diagnosis
000267343 650_2 $$2MeSH$$aSpinocerebellar Ataxias: drug therapy
000267343 650_2 $$2MeSH$$aSpinocerebellar Ataxias: genetics
000267343 650_2 $$2MeSH$$aAtaxia: complications
000267343 650_2 $$2MeSH$$aPhenotype
000267343 7001_ $$aDanzi, Matt C$$b1
000267343 7001_ $$aRenaud, Mathilde$$b2
000267343 7001_ $$aHoulden, Henry$$b3
000267343 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b4$$udzne
000267343 7001_ $$aZuchner, Stephan$$b5
000267343 7001_ $$00000-0003-1394-3561$$aBrais, Bernard$$b6
000267343 773__ $$0PERI:(DE-600)2697013-2$$a10.1002/ctm2.1504$$gVol. 14, no. 1, p. e1504$$n1$$pe1504$$tClinical and translational medicine$$v14$$x2001-1326$$y2024
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