Article
A series of cases with Huntington-like phenotype and intermediate repeats in HTT.
Journal of the neurological sciences - 15 Jun 2021
Reguera Acuña Antía, Suárez San Martín Esther, García Fernández Ciara, Fernández Menéndez Santiago, Blázquez Estrada Marta, Amorín Díaz Manuel, Menéndez González Manuel, Álvarez Martínez Victoria
Abstract excerpt
BACKGROUND: Intermediate Alleles (IAs) are expansions of CAG repeats in the HTT gene between 27 and 35 repeats which pathogenic meaning remains controversial. They are present in the general population but there is an increasing number of cases with Huntington-like phenotype reported. METHODS: We reviewed the medical records of cases in our centre where the neurologist suspected Huntington's disease (HD) as one...
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