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Autor:
Franco Taroni, Caterina Mariotti, Anna De Rosa, Alessia Mongelli, Tommasina Fico, Cinzia Gellera, Elena Rizzo, Lorenzo Nanetti, Elena Salvatore, Marta Gatti, Stefania Magri
Publikováno v:
Neurological Sciences. 41:1475-1482
Huntington disease (HD) and spinocerebellar ataxia type 1-2-17 (SCA1-2-17) are adult-onset autosomal dominant diseases, caused by triplet repeat expansions in the HTT, ATXN1, ATXN2, and TBP genes. Alleles with a repeat number just below the pathologi