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Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis

Author

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  • Carmen Gasca-Salas
  • Mario Masellis
  • Edwin Khoo
  • Binit B Shah
  • David Fisman
  • Anthony E Lang
  • Galit Kleiner-Fisman

Abstract

Background: Mutations in granulin (PGRN) and tau (MAPT), and hexanucleotide repeat expansions near the C9orf72 genes are the most prevalent genetic causes of frontotemporal lobar degeneration. Although behavior, language and movement presentations are common, the relationship between genetic subgroup and movement disorder phenomenology is unclear. Objective: We conducted a systematic review and meta-analysis of the literature characterizing the spectrum and prevalence of movement disorders in genetic frontotemporal lobar degeneration. Methods: Electronic databases were searched using terms related to frontotemporal lobar degeneration and movement disorders. Articles were included when cases had a proven genetic cause. Study-specific prevalence estimates for clinical features were transformed using Freeman-Tukey arcsine transformation, allowing for pooled estimates of prevalence to be generated using random-effects models. Results: The mean age at onset was earlier in those with MAPT mutations compared to PGRN (p

Suggested Citation

  • Carmen Gasca-Salas & Mario Masellis & Edwin Khoo & Binit B Shah & David Fisman & Anthony E Lang & Galit Kleiner-Fisman, 2016. "Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis," PLOS ONE, Public Library of Science, vol. 11(4), pages 1-20, April.
    • Handle: RePEc:plo:pone00:0153852
    DOI: 10.1371/journal.pone.0153852
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