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

Giri, Anamika; Guven, ZEYNEP; Hanagasi, HAŞMET; Hauser, Ann-Kathrin; Erginul-Unaltuna, Nihan; Bilgic, BAŞAR; Gurvit, İBRAHİM; Heutink, Peter; Gasser, Thomas; Lohmann, Ebba; Simon-Sanchez, Javier

doi:10.7916/d81g0m12

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., ...Daha Fazla

TREMOR AND OTHER HYPERKINETIC MOVEMENTS, cilt.6, 2016 (ESCI, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 6
Basım Tarihi: 2016
Doi Numarası: 10.7916/d81g0m12
Dergi Adı: TREMOR AND OTHER HYPERKINETIC MOVEMENTS
Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
Anahtar Kelimeler: PLA2G6, parkinsonism, LRRK2, DCNT1
İstanbul Üniversitesi Adresli: Evet

Özet

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.