Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.

doi:10.1007/s10038-006-0001-9

Article

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.

Journal of human genetics - 1 Jan 2006

Costa Maria do Carmo, Teixeira-Castro Andreia, Constante Marco, Magalhães Marina, Magalhães Paula, Cerqueira Joana, Vale José, Passão Vitorina, Barbosa Célia, Robalo Conceição, Coutinho Paula, Barros José, Santos Manuela M, Sequeiros Jorge, Maciel Patrícia

Abstract excerpt

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterised by chorea, cognitive impairment, dementia and personality changes, caused by the expansion of a CAG repeat in the HD gene. Often, patients with a similar clinical presentation do not carry expansions of the CAG repeat in this gene [Huntington disease-like (HDL) patients]. We report the genetic analysis of 107 Portuguese...

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Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.

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