Clinical traits of LRRK2-associated parkinson's disease in ireland: a link between familial and idiopathic PD

The role of genetics in parkinsonism has been confirmed over the last decade with the identification of genetic variation in seven genes, which are causative in familial forms of the disorder. A number of pathogenic mutations have been identified in the latest gene LRRK2, with a Gly2019Ser amino acid substitution identified in two siblings and one patient with idiopathic Parkinson's disease from Ireland. The clinical features resemble the idiopathic variant with a tremor predominant clinical picture shared by the siblings, slow progression of symptoms, and no observation of cognitive disturbance in all. The family and the sporadic individual were apparently not related and originated from different regions of Ireland, although haplotype analysis does suggest they share a common founder. The influence of the G2019S substitution on protein function and disease phenotype has yet to be fully resolved, but its elucidation will undoubtedly further our understanding of the mechanisms underlying Parkinson's disease.

Un episodio en la recepción cultural dieciochesca de lo exótico: la llegada del elefante a Madrid en 1773

At the end of 1773 an Indian elephant, brought for the royal ménagerie at Aranjuez, was shown in the streets of Madrid. The resulting public fascination provoked by the intrusion of this exotic animal can be traced through poems (Tomás de Iriarte), short plays (Ramón de la Cruz), articles in the periodical press, popular and scientific prints representing the animal, and even in the costumbrista pastels of Lorenzo Tiepolo. The mythic and premodern knowledge of animal nature collides in a debate with the new scientific observation. In the final decades of the 18th century, the image of the captive elephant acquired in Europe a new symbolic meaning linked with the political fight against slavery. All these very different elements converge in Goya's Disparate de bestia.