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., ...Daha Fazla

PARKINSONISM & RELATED DISORDERS, cilt.66, ss.228-231, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 66
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1016/j.parkreldis.2019.07.033
  • Dergi Adı: PARKINSONISM & RELATED DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.228-231
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.