FMR1 premutations may be associated with a wider spectrum of phenotypes

• Author(s): Seixas, Ana ; Vale, José ; Martins, Márcia ; Loureiro, Joana ; Jorge, Paula ; Maques, Isabel ; Santos, Rosário ; Coutinho, Paula ; Margolis, Russell ; Sequeiros, Jorge ; Silveira, Isabel
• Date: 2011
• Persistent ID: http://hdl.handle.net/10400.18/655
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Doenças Genéticas; FXTAS
• Document Type: Other
• Language: English

Description

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.