Chapter

Genetics of the MNDs

Ashley Jones and Ammar Al-Chalabi

in Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias

Published on behalf of Oxford University Press

Published in print October 2012 | ISBN: 9780199590674
Published online November 2012 | e-ISBN: 9780191753466 | DOI: http://dx.doi.org/10.1093/med/9780199590674.003.0021
Genetics of the MNDs

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In conclusion, genetic studies of ALS are beginning to shed light on the underlying pathways that lead to motor neuron degeneration. Axonal degeneration, synaptic signalling, and RNA processing are themes that are emerging. For example, TDP-43, FUS, ANG, SMN, and ELP3 are all RNA processing proteins. After a decade of effort at understanding ALS with models based on just one gene, SOD1, we now have many genes to build a picture of the pathogenic process with several more on the way. The relationship between ALS and frontotemporal dementia is becoming clearer as genes common and distinct for the two diseases become apparent, and with our greater understanding comes the hope that a new treatment will be generated.

Chapter.  7608 words.  Illustrated.

Subjects: Neurology ; Clinical Genetics

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