Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears.
Seyyed-Saleh HashemiReza HajatiAtefeh DavarzaniMohammad RohaniFardad DanaeeFardMohammad Masoud Rahimi BidgoliFarzad FatehiAriana KariminejadHossein NajmabadiShahriar NafissiAfagh AlaviPublished in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2021)
It seems SPAST will be the first candidate gene in families that manifests a pure form of AD-HSP and anticipation. Therefore, it may be a powerful situation of genotype-phenotype correlation. However, the underlying mechanism of anticipation in these families is not clear yet.