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000276089 041__ $$aEnglish
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000276089 1001_ $$aPellerin, David$$b0
000276089 245__ $$aRecent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.
000276089 260__ $$aPhiladelphia, Pa.$$bCurrent Science Inc.$$c2025
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000276089 520__ $$aAutosomal dominant cerebellar ataxias, also known as spinocerebellar ataxias (SCAs), are genetically and clinically diverse neurodegenerative disorders characterized by progressive cerebellar dysfunction. Despite advances in sequencing technologies, a large proportion of patients with SCA still lack a definitive genetic diagnosis. The advent of advanced bioinformatic tools and emerging genomics technologies, such as long-read sequencing, offers an unparalleled opportunity to close the diagnostic gap for hereditary ataxias. This article reviews the recently identified repeat expansion SCAs and describes their molecular basis, epidemiology, and clinical features.Leveraging advanced bioinformatic tools and long-read sequencing, recent studies have identified novel pathogenic short tandem repeat expansions in FGF14, ZFHX3, and THAP11, associated with SCA27B, SCA4, and SCA51, respectively. SCA27B, caused by an intronic (GAA)•(TTC) repeat expansion, has emerged as one of the most common forms of adult-onset hereditary ataxias, especially in European populations. The coding GGC repeat expansion in ZFHX3 causing SCA4 was identified more than 25 years after the disorder's initial clinical description and appears to be a rare cause of ataxia outside northern Europe. SCA51, caused by a coding CAG repeat expansion, is overall rare and has been described in a small number of patients. The recent identification of three novel pathogenic repeat expansions underscores the importance of this class of genomic variation in the pathogenesis of SCAs. Progress in sequencing technologies holds promise for closing the diagnostic gap in SCAs and guiding the development of therapeutic strategies for ataxia.
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000276089 650_7 $$2Other$$aAutosomal dominant cerebellar ataxia
000276089 650_7 $$2Other$$aFGF14
000276089 650_7 $$2Other$$aGenome sequencing
000276089 650_7 $$2Other$$aSpinocerebellar ataxia
000276089 650_7 $$2Other$$aSpinocerebellar ataxia 27B (SCA27B)
000276089 650_7 $$2Other$$aSpinocerebellar ataxia 4 (SCA4)
000276089 650_7 $$2Other$$aSpinocerebellar ataxia 51 (SCA51)
000276089 650_7 $$2Other$$aTHAP11
000276089 650_7 $$2Other$$aZFHX3
000276089 650_2 $$2MeSH$$aHumans
000276089 650_2 $$2MeSH$$aSpinocerebellar Ataxias: genetics
000276089 650_2 $$2MeSH$$aSpinocerebellar Ataxias: diagnosis
000276089 650_2 $$2MeSH$$aDNA Repeat Expansion: genetics
000276089 7001_ $$aIruzubieta, Pablo$$b1
000276089 7001_ $$aXu, Isaac R L$$b2
000276089 7001_ $$aDanzi, Matt C$$b3
000276089 7001_ $$aCortese, Andrea$$b4
000276089 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b5$$udzne
000276089 7001_ $$aHoulden, Henry$$b6
000276089 7001_ $$aZuchner, Stephan$$b7
000276089 7001_ $$aBrais, Bernard$$b8
000276089 773__ $$0PERI:(DE-600)2094171-7$$a10.1007/s11910-024-01400-8$$gVol. 25, no. 1, p. 16$$n1$$p16$$tCurrent neurology and neuroscience reports$$v25$$x1528-4042$$y2025
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