Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Pilar Gomez-GarreSilvia JesúsMaría Teresa PeriñánAstrid AdarmesAraceli Alonso-CanovasAlberto Blanco-OlleroDolores Buiza-RuedaFátima CarrilloMaría José Catalán-AlonsoJavier Del ValFrancisco Escamilla-SevillaRaúl Espinosa-RossoMaría Carmen Fernández-MorenoJosé Manuel García-MorenoPedro José García-RuizSandra Giacometti-SilveiraJavier Gutiérrez-GarcíaEva López-ValdésDaniel Macías-GarcíaMartínez-Castrillo Juan CarlosIrene Martínez-TorresMaría Pilar Medialdea-NateraAdolfo Mínguez-CastellanosMiguel Ángel MoyaJuan José Ochoa-SepulvedaTomás OjeaNuria RodríguezMiriam Sillero-SánchezCristina Tejera-ParradoPablo MirPublished in: European journal of neurology (2020)
There is a different genetic contribution to dystonia of these three genes in our patients (about 1.3% of patients) and in the literature (about 3.6% of patients), probably due the high proportion of adult-onset cases in our cohort. As regards age at onset, site of dystonia onset, and final distribution, in our population there is a clear differentiation between DYT-TOR1A and DYT-GNAL, with DYT-THAP1 likely to be an intermediate phenotype.