Tremor and Other Hyperkinetic Movements (Mar 2016)

<i>PLA2G6</i> Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

  • Anamika Giri,
  • Gamze Guven,
  • Hasmet Hanagasi,
  • Ann-Kathrin Hauser,
  • Nihan Erginul-Unaltuna,
  • Basar Bilgic,
  • Hakan Gurvit,
  • Peter Heutink,
  • Thomas Gasser,
  • Ebba Lohmann,
  • Javier Simón-Sánchez

DOI
https://doi.org/10.7916/D81G0M12
Journal volume & issue
Vol. 6

Abstract

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Background: PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia–parkinsonism. Methods: A consanguineous index case from Turkey was diagnosed with early-onset Parkinsonism at the Istanbul Faculty of Medicine. She and her unaffected brother were subjected to whole-genome sequencing. Results: In this report, we describe a 33-year-old index case with parental consanguinity and early-onset Parkinsonism. Whole-genome sequencing of this individual revealed that a homozygous p.R747W mutation in PLA2G6 segregates with the disease in this family Discussion: This result supports the importance of prioritizing this gene in mutational analysis of autosomal recessive Parkinsonism, and confirms the clinical heterogeneity of PLAN.