SPINOCEREBELLAR ATAXIAS: FROM PATHOGENESIS TO RECENT THERAPEUTIC ADVANCES

Spinocerebellar ataxia is a phenotypically and genetically heterogeneous group of autosomal dominant-inherited degenerative disorders.The gene mutation spectrum includes dynamic expansions, point mutations, duplications, insertions, and deletions of varying lengths.Dynamic expansion is the most common form of mutation.Mutations often result in indi