Síndromes de distonía-parkinsonismo / Dystonia-Parkinsonism syndromes

Introducción. Los síndromes de Distonía-Parkinsonismo son distonías plus, en las que además de manifestaciones distónicas, hay otros trastornos del movimiento asociados, en este caso parkinsonismo. Objetivo. Realizar una actualización y revisión bibliográfica de los síndromes de Distonía-Parkinsonismo. Desarrollo. Se revisan las manifestaciones clínicas, diagnóstico, tratamiento y pronóstico de: Parkinsonismo-distonía ligado al cromosoma X, Distonía con respuesta a levodopa, Distonía-parkinsonismo de inicio rápido, y Distonía-parkinsonismo precoz. Y se realiza un diagnóstico diferencial con otras causas que cursan con una combinación de síntomas de parkinsonismo y distonía. Conclusiones. Se encuentran identificadas múltiples causas, entre las distonías monogénicas se han identificado aproximadamente 20, de acuerdo al trastorno genético causal. La mayoría de los tratamientos son de tipo sintomático, esperando que en el futuro el mejor conocimiento de las alteraciones genéticas, brinde posibilidades terapéuticas efectivas (AU)

Introduction. Dystonia-parkinsonism syndromes are dystonias-plus, in which, in addition to dystonic manifestations, there are also other associated movement disorders - in this case parkinsonism. Aims. The aim of this study is to carry out an updated review of the literature on Dystonia-parkinsonism syndromes. Development. The study reviews the clinical manifestations, diagnosis, treatment and prognosis of X-linked dystoniaparkinsonism, dopa-responsive dystonia, rapid-onset dystonia-parkinsonism and early-onset dystonia-parkinsonism. Differential diagnosis is also performed with other causes that are accompanied by a combination of symptoms of parkinsonism and dystonia. Conclusions. A number of different causes have been identified - approximately 20 among the monogenic dystonias, according to the causal genetic disorder. Most of the treatments are of the symptomatic type, although in the future a deeper understanding of genetic disorders is expected to yield effective therapeutic possibilities (AU)

The origin of the Chorthippus parallelus hybrid zone: chromosomal evidence of multiple refugia for Iberian populations.

A study of the variation in pattern and frequency of constitutive heterochromatin and nucleolar organizing regions of the X chromosomes of male Chorthippus parallelus grasshoppers in 25 populations within the Iberian peninsula requires us to revise our interpretation of the biogeography and evolutionary history of this species. Hybridization between the subspecies Cp erythropus and Cp parallelus, previously only known from populations in the Pyrenean cols, is shown to extend at least 400 km further into north-west Spain. A novel X-chromosome variant is described that appears to be close to fixation in 18 populations, mainly from the centre and south of Spain. Our findings indicate a possible independent origin for each of three distinct, nonderivative X variants present in Spain: the northern Cp erythropus and Cp parallelus variants, and a central-southern Cp erythropus variant. The first two are distinguished by interstitial and distal C bands, respectively, whereas the central-southern form has neither. This central-southern form is probably the current representative of the ancestral Iberian X variant. The pattern of variation supports the hypotheses of multiple refugia for Iberian populations and that more hybrid zones exist between these chromosomal variants.