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Published in: neurogenetics 3-4/2013

01-11-2013 | Editorial

Genetic modifiers in Huntington’s disease: fiction or fact?

Authors: Larissa Arning, Jörg T. Epplen

Published in: Neurogenetics | Issue 3-4/2013

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Excerpt

Extensive evidence suggests that a significant proportion of variance in the age at onset (AO) of Huntington’s disease (HD) arises from common genetic variations [1], including single nucleotide polymorphisms (SNPs). Such sequence variation and the resulting changes in protein structure and function could have an impact on various interacting metabolic networks by influencing gene expression. Such pathway interactions may influence the time when first characteristic extrapyramidal motor signs of chorea, bradykinesia, dystonia, or malcoordination become overt. Yet, the contributing variations individually might be neither necessary nor sufficient to affect the AO, in contrast to the classical Huntingtin (HTT) mutation itself, which leads in any case to the disease phenotype. …
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Metadata
Title
Genetic modifiers in Huntington’s disease: fiction or fact?
Authors
Larissa Arning
Jörg T. Epplen
Publication date
01-11-2013
Publisher
Springer Berlin Heidelberg
Published in
Neurogenetics / Issue 3-4/2013
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI
https://doi.org/10.1007/s10048-013-0365-x

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ACKNOWLEDGEMENT TO REFEREES

Acknowledgement to Referees 2012/2013