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Heterozygous missense variants in the SPTBN2 gene, encoding the non‐erythrocytic beta spectrin 2 subunit (beta‐III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult‐onset neurodegenerative disorder characterized by progressive cerebellar ataxia, whereas homozygous loss of function variants in SPTBN2 have been associated with early onset cerebellar...
The objective of this study was the identification of likely genes and mutations associated with an autosomal recessive (AR) rare spinocerebellar ataxia (SCA) phenotype in two patients with infantile onset, from a consanguineous family. Using genome-wide SNP screening, autozygosity mapping, targeted Sanger sequencing and nextgen sequencing, family segregation analysis, and comprehensive neuropanel,...
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