Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family


Kuipers D., Tufekcioglu Z., Bilgiç B. , Olgiati S., Dremmen M., van I., ...More

PARKINSONISM & RELATED DISORDERS, vol.66, pp.228-231, 2019 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 66
  • Publication Date: 2019
  • Doi Number: 10.1016/j.parkreldis.2019.07.033
  • Title of Journal : PARKINSONISM & RELATED DISORDERS
  • Page Numbers: pp.228-231

Abstract

Objective: Recessive mutations in the Gap Junction Protein Gamma 2 (GJC2) gene cause Pelizaeus-Merzbacherlike disease type 1, a severe infantile-onset hypomyelinating leukodystrophy. Milder, late-onset phenotypes including complicated spastic paraplegia in one family (SPG44), and mild tremor in one case, were reported associated to GJC2 homozygous missense mutations. Here, we report a new family with two siblings carrying a different homozygous GJC2 mutation, presenting with late-onset ataxic and pyramidal disturbances, and parkinsonism in one of them.