The paper reviewed here is an open access article on the genetics of Frontotemporal Lobar degeneration by Aswathy and colleagues at the renowned Sree Chitra Tirunal Institute and which is freely available here. This is an interesting area where there has been a lot of progress and many publications (e.g see here for a review of a previous paper on the genetics of Alzheimer’s Disease and Frontotemporal Dementia
Degeneration). Initially the authors discuss Frontotemporal Lobar Degeneration and Frontotemporal Dementia in separate sections elaborating on the presentation and aetiology and setting the scene for the rest of the paper. The authors then focus on Chromosome 17, explaining the significance of the localisation of the PGRN and MAPT genes in a region associated with Frontotemporal Dementia in linkage studies. There is then a discussion of the function of many important genes including the aforementioned PGRN and MAPT genes as well as TDP-43. The authors note along the way that the functions of these genes are currently poorly characterised although certain themes do emerge including gene transcription, cellular transport mechanisms and microtubule phosphorylation processes. They cover a number of the more obscure gene associations. This is a very useful paper for those wanting to get to grips with the genetics of FTLD quickly and for me the two strengths of the paper are the detailed discussions of the cellular biology (although much remains to be clarified in future research) and the overview of the complex taxonomic structures. In future research there is a great scope for sketching out the intermediate areas between gene function and syndromes which in turn will depend on a further clarification of the cellular neurobiology and how this relates to functional circuits in the brain. This latter topic is perhaps one of the most perplexing as although broad functions can be ascribed to brain regions the complex interconnection in the brain make isolated regional models of brain function redundant. Developing a functional language of the brain itself is at risk of dependence on an oversimplification of modular functions within the brain and yet these difficulties must be overcome in order to translate new insights in cellular biology into a clinically useful language.
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