Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

Pedro Gonzalez-Alegre; Jorge Di Paola; Kai Wang; Shay Fabbro; Hung-Chun Yu; Tamim H Shaikh; Benjamin W Darbro; Alexander G Bassuk

doi:10.7916/d8fb51g3

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Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

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Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

Pedro Gonzalez-Alegre, Jorge Di Paola, Kai Wang, Shay Fabbro, Hung-Chun Yu, Tamim H Shaikh, Benjamin W Darbro and Alexander G Bassuk

Tremor and Other Hyperkinetic Movements, Vol.4, pp.Tremor and Other Hyperkinetic Movements-258

10/21/2014

DOI: 10.7916/d8fb51g3

PMID: 25374765

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Abstract

Background: Essential tremor is a common movement disorder with a strong heritable component. Large families with inherited forms of essential tremor have undergone genetic analyses by different approaches. However, our knowledge of genetic variants unequivocally linked to essential tremor is remarkably limited. Several explanations have been put forth to explain this challenge, including the possibility of mutations in non-coding areas of the genome. Methods: We encountered a family with highly penetrant, autosomal dominant tremor. We hypothesized that, if a single coding gene mutation was responsible for the phenotype, novel genetic tools would allow us to identify it. We employed single nucleotide polymorphism (SNP) arrays in 17 members of this family followed by next generation whole-exome sequencing in five affected subjects. Results: We did not identify any copy number variant or mutation that segregated with the disease phenotype. Discussion: This study emphasizes the remarkably challenging field of tremor genetics and indicates that future studies should perhaps shift to analysis of the non-coding genome.

Details

Title: Subtitle: Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?
Creators: Pedro Gonzalez-Alegre
Jorge Di Paola
Kai Wang
Shay Fabbro
Hung-Chun Yu
Tamim H Shaikh
Benjamin W Darbro
Alexander G Bassuk
Resource Type: Journal article
Publication Details: Tremor and Other Hyperkinetic Movements, Vol.4, pp.Tremor and Other Hyperkinetic Movements-258
DOI: 10.7916/d8fb51g3
PMID: 25374765
NLM abbreviation: Tremor Other Hyperkinet Mov (N Y)
ISSN: 2160-8288
eISSN: 2160-8288
Publisher: Tremor and Other Hyperkinetic Movements
Language: English
Date published: 10/21/2014
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Biostatistics; Medical Genetics and Genomics; Neurology (Pediatrics)
Record Identifier: 9983997451102771

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