Enthusiasm for research on the brain and its application in education is growing among teachers. However, a lack of sufficient knowledge, poor communication between educators and scientists, and the effective marketing of dubious educational products has led to the proliferation of numerous ‘neuromyths.’ As a first step toward designing effective interventions to correct these misconceptions, previous studies have explored the prevalence of neuromyths in different countries. In the present study we extend this applied research by gathering data from a new sample of Spanish teachers and by meta-analyzing all the evidence available so far. Our results show that some of the most popular neuromyths identified in previous studies are also endorsed by Spanish teachers. The meta-analytic synthesis of these data and previous research confirms that the popularity of some neuromyths is remarkably consistent across countries, although we also note peculiarities and exceptions with important implications for the development of effective interventions. In light of the increasing popularity of pseudoscientific practices in schools worldwide, we suggest a set of interventions to address misconceptions about the brain and education.
Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal-dominant neurodegenerative disorders involving the cerebellum and 23 different genes. We mapped SCA38 to a 56 Mb region on chromosome 6p in a SCA-affected Italian family by whole-genome linkage analysis. Targeted resequencing identified a single missense mutation (c.689G>T [p.Gly230Val]) in ELOVL5. Mutation screening of 456 independent SCA-affected individuals identified the same mutation in two further unrelated Italian families. Haplotyping showed that at least two of the three families shared a common ancestor. One further missense variant (c.214C>G [p.Leu72Val]) was found in a French family. Both missense changes affect conserved amino acids, are predicted to be damaging by multiple bioinformatics tools, and were not identified in ethnically matched controls or within variant databases. ELOVL5 encodes an elongase involved in the synthesis of polyunsaturated fatty acids of the ω3 and ω6 series. Arachidonic acid and docosahexaenoic acid, two final products of the enzyme, were reduced in the serum of affected individuals. Immunohistochemistry on control mice and human brain demonstrated high levels in Purkinje cells. In transfection experiments, subcellular localization of altered ELOVL5 showed a perinuclear distribution with a signal increase in the Golgi compartment, whereas the wild-type showed a widespread signal in the endoplasmic reticulum. SCA38 and SCA34 are examples of SCAs due to mutations in elongase-encoding genes, emphasizing the importance of fatty-acid metabolism in neurological diseases.
We show how phenotypic and genetic analyses of array-CGH data allow unraveling complex cases, identifying rare disease genes, and revealing unexpected position effects.
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