Abstract
Cognitive impairment and dementia—an update
Highlights
Galimberti and Scarpini (2012) have approached the ever more complex subject of frontotemporal dementia genetics. This mini-review deals with the major issues regarding this topic, including genes involved, phenotypic aspects, and even the fresh scientific breakthrough in this field—the association between FTD and the pathologic hexanucleotide repeat expansion in the C9ORF72 gene
This scientific novelty brought a long looked-for molecular explanation for a significant number of cases seen in clinic, especially those associated with amyotrophic lateral sclerosis and a positive family history
This article is very well complemented by the manuscript from de Mendonça (2012), who provides important reflections concerning the recent changing paradigms of clinical and scientific thinking in Alzheimer’s disease (AD)
Summary
Galimberti and Scarpini (2012) have approached the ever more complex subject of frontotemporal dementia genetics. This mini-review deals with the major issues regarding this topic, including genes involved, phenotypic aspects, and even the fresh scientific breakthrough in this field—the association between FTD and the pathologic hexanucleotide repeat expansion in the C9ORF72 gene. Alves et al (2012) have produced a comprehensive review concerning the most important aspects of Alzheimer’s disease (AD), including clinical features, genetics, pathophysiology, clinical genetic testing, diagnostic strategies, and management.
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