PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

Giri A., Guven G., Hanagasi H. A., Hauser A., Erginul-Unaltuna N., Bilgic B., ...More

TREMOR AND OTHER HYPERKINETIC MOVEMENTS, vol.6, 2016 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 6
  • Publication Date: 2016
  • Doi Number: 10.7916/d81g0m12
  • Journal Name: TREMOR AND OTHER HYPERKINETIC MOVEMENTS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Keywords: PLA2G6, parkinsonism, LRRK2, DCNT1
  • Istanbul University Affiliated: Yes

Abstract

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.