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Molecular diagnosis of Huntington disease in Portugal: implications for genetic...
Costa, MC; Magalhães, P; Ferreirinha, F; Guimarães, L; Januário, C; Gaspar, I; Loureiro, L; Vale, J; Garrett, C; Regateiro, FJ; Magalhães, M; Sousa, AHuntington disease (HD) is a neurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic t...
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n alle...
Silveira, I; Miranda, C; Guimarães, L; Moreira, MC; Alonso, I; Mendonça, P; Ferro, A; Pinto-Basto, J; Coelho, J; Ferreirinha, F; Poirier, J; Vale, JBACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions. However, in some instances the molecular diagnosis is considered indeterminate because of the overlap between normal and affected allele ranges. In addition, the mechanism that generates expanded alleles is not completely understood. OBJECTIVE: To examine the...
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