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Advances in the Genetics of Human Tremor

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Mechanisms and Emerging Therapies in Tremor Disorders

Part of the book series: Contemporary Clinical Neuroscience ((CCNE))

Abstract

This chapter aims at describing the recent advances in the genetics of human tremor. Several human disorders are characterized by tremor as one of the possible symptoms, making it almost impossible to fully describe the genetic basis of each of them within the context of a single book chapter. Essential tremor (ET) and Parkinsonian tremor represent the most common forms of human tremor and their genetics is fully described within the first sections of the chapter. Following the introduction, the chapter starts with a description of the genetics of Parkinson’s disease (PD) given the great advances in our understanding during the last two decades. PD is characterized by resting tremor, rigidity, bradykinesia, and postural instability as well as several non-motor symptoms. Linkage studies in PD families identified five well-validated causative genes for the disease and several potential genes/loci (Nuytemans et al. 2010). Moreover, the recent application of genome-wide association (GWAS) approaches is now revealing genetic variants that increase the risk for the sporadic (idiopathic) forms of the disease (Hardy 2010). However, despite the continuous advance in our understanding of the genetics of Parkinsonian tremor, little is still known concerning essential tremor, the most common pathologic tremor in humans. As discussed in the third section of this chapter three ET loci have been linked to the disease, but no causative gene has been so far identified. Interestingly, a recent GWAS revealed association between ET and the LINGO1 gene, and replication studies are ongoing in several ET populations (Tan 2010). Tremor is often observed in other diseases, including ataxias and dystonias, and several examples of monogenic forms of these disorders are provided within the text. Moreover, the chapter covers the genetics of familial cortical myoclonic tremor with epilepsy, Roussy–Lévy syndrome, and Wilson’s tremor.

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  1. Faculty of Medicine, Section of Medical Genetics, University of Pisa, Via S. Giuseppe 22, 56126, Pisa, Italy

    Fabio Coppedè Ph.D.

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    Giuliana Grimaldi

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    Mario Manto

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Coppedè, F. (2013). Advances in the Genetics of Human Tremor. In: Grimaldi, G., Manto, M. (eds) Mechanisms and Emerging Therapies in Tremor Disorders. Contemporary Clinical Neuroscience. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-4027-7_4

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