48 research outputs found
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease
We studied a Malian family with parental consanguinity and two of eight siblings affected with late-childhood-onset progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis showed a novel homozygous single-nucleotide variant in the NHLRC1 gene, c.560A>C, producing the missense change H187P. The changed amino acid is highly conserved, and the mutation impairs malin's ability to degrade laforin in vitro. Pathological evaluation showed manifestations of Lafora disease in the entire brain, with particularly severe involvement of the pallidum, thalamus, and cerebellum. Our findings document Lafora disease with severe manifestations in the West African population
Liberal governmentality in Spain: bodies, minds, and the medical construction of the âoutsider,â 1870â1910
This paper traces the fragility of the subject in the period extending from the aftermath of the Sexenio through to the early twentieth century. In particular, two case studies are focused upon: the question of gender âdevianceâ and the figure of the genius, in order to understand how medicine participated in the construction of âoutsiderâ identities within the context of the emerging liberal order. How did liberal rationales exclude or curtail certain wayward expressions of identity and subjectivity? What consequences did the marking of âexcessiveâ figures or outsiders have for notions of inclusiveness and citizenship within the late-nineteenth-century liberal order? By concentrating primarily on medical texts and journals published during the period, this study builds on existing research to tease out answers to these questions