HPCA Confirmed as a Genetic Cause of DYT2-Like Dystonia Phenotype

Atasu, Burcu; Hanagasi, HAŞMET; Bilgic, BAŞAR; Pak, Meltem; Erginel-Unaltuna, Nihan; Hauser, Ann-Kathrin; Guven, ZEYNEP; Simon-Sanchez, Javier; Heutink, Peter; Gasser, Thomas; Lohmann, Ebba

doi:10.1002/mds.27442

HPCA Confirmed as a Genetic Cause of DYT2-Like Dystonia Phenotype

Atasu B., Hanagasi H. A., Bilgic B., Pak M., Erginel-Unaltuna N., Hauser A., ...Daha Fazla

MOVEMENT DISORDERS, cilt.33, sa.8, ss.1354-1358, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 33 Sayı: 8
Basım Tarihi: 2018
Doi Numarası: 10.1002/mds.27442
Dergi Adı: MOVEMENT DISORDERS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1354-1358
Anahtar Kelimeler: dystonia, HPCA, Turkey, DYT2, mutation, ACTIVATION
İstanbul Üniversitesi Adresli: Evet

Özet

Background: HPCA (hippocalcin) is one of the underlying genetic causes of autosomal-recessively inherited forms of dystonia. Here, we describe two consanguineous Turkish DYT-HPCA families carrying the novel HPCA mutations.