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Journal of Neurology

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01.11.2013 | Medical Progress in the Journal of Neurology

Amyotrophic lateral sclerosis: an update on recent genetic insights

verfasst von: Yohei Iguchi, Masahisa Katsuno, Kensuke Ikenaka, Shinsuke Ishigaki, Gen Sobue

Erschienen in: Journal of Neurology | Ausgabe 11/2013

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Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting both upper and lower motor neurons. The prognosis for ALS is extremely poor, but there is a limited course of treatment with only one approved medication. A most striking recent discovery is that TDP-43 is identified as a key molecule that is associated with both sporadic and familial forms of ALS. TDP-43 is not only a pathological hallmark, but also a genetic cause for ALS. Subsequently, a number of ALS-causative genes have been found. Above all, the RNA-binding protein, such as FUS, TAF15, EWSR1 and hnRNPA1, have structural and functional similarities to TDP-43, and physiological functions of some molecules, including VCP, UBQLN2, OPTN, FIG4 and SQSTM1, are involved in a protein degradation system. These discoveries provide valuable insight into the pathogenesis of ALS, and open doors for developing an effective disease-modifying therapy.

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Titel: Amyotrophic lateral sclerosis: an update on recent genetic insights
verfasst von: Yohei Iguchi
Masahisa Katsuno
Kensuke Ikenaka
Shinsuke Ishigaki
Gen Sobue
Publikationsdatum: 01.11.2013
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology / Ausgabe 11/2013
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-013-7112-y

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Amyotrophic lateral sclerosis: an update on recent genetic insights

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