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Title: FMR1 premutations may be associated with a wider spectrum of phenotypes
Authors: Seixas, Ana
Vale, José
Martins, Márcia
Loureiro, Joana
Jorge, Paula
Maques, Isabel
Santos, Rosário
Coutinho, Paula
Margolis, Russell
Sequeiros, Jorge
Silveira, Isabel
Keywords: Doenças Genéticas
Issue Date: Sep-2011
Publisher: MR Workshop
Citation: 15th International Workshop on Fragile X and Other Early-Onset Cognitive Disorders, 2011:74
Abstract: The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5’UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assessed CGG repeat size in males with disease onset after the age of 50 and negative or unknown family history for late-onset movement disorders, who were sent for SCA, HD, or PD genetic testing at a reference laboratory. The selected patients had a primary clinical diagnosis based on one of the following cardinal features of FXTAS: ataxia, tremor, or cognitive decline.
Appears in Collections:DGH - Posters/abstracts em congressos internacionais

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