Investigating the role of FUS exonic variants in Essential Tremor

Catherine Labbé, Alexandra I. Soto-Ortolaza, Sruti Rayaprolu, Andrea M. Harriott, Audrey J. Strongosky, Ryan J. Uitti, Jay A Van Gerpen, Zbigniew K Wszolek, Owen A Ross

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28 Scopus citations

Abstract

Essential Tremor is the most common form of movement disorder. Aggregation in families suggests a strong genetic component to disease. Linkage and association studies have identified several risk loci but the specific causal variants are still unknown. A recent study using whole exome sequencing identified a rare nonsense variant in the FUS gene (p.Q290X) that segregated with Essential Tremor in a large French Canadian family. In addition, two other rare FUS variants were identified (p.R216C and p.P431L) in Essential Tremor patients however co-segregation analysis with disease was not possible. In the present study, we sequenced all 15 exons of FUS in 152 familial probands with Essential Tremor and genotyped three reported FUS variants in 112 sporadic Essential Tremor patients and 716 control subjects recruited at Mayo Clinic Florida. Only known synonymous SNPs unlikely to be pathogenic were detected in our sequencing and not any of the recently identified mutations or novel ones. We conclude that the FUS mutations associated with risk of Essential Tremor are probably a rare occurrence.

Original languageEnglish (US)
Pages (from-to)755-757
Number of pages3
JournalParkinsonism and Related Disorders
Volume19
Issue number8
DOIs
StatePublished - Aug 2013

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Keywords

  • Essential Tremor
  • Fused in sarcoma
  • Genetic
  • Parkinson disease

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

Cite this

Labbé, C., Soto-Ortolaza, A. I., Rayaprolu, S., Harriott, A. M., Strongosky, A. J., Uitti, R. J., Van Gerpen, J. A., Wszolek, Z. K., & Ross, O. A. (2013). Investigating the role of FUS exonic variants in Essential Tremor. Parkinsonism and Related Disorders, 19(8), 755-757. https://doi.org/10.1016/j.parkreldis.2013.03.005