Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family
PARKINSONISM & RELATED DISORDERS, cilt.66, ss.228-231, 2019 (SCI-Expanded, Scopus)
- 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.