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., ...More

MOVEMENT DISORDERS, vol.33, no.8, pp.1354-1358, 2018 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 33 Issue: 8
Publication Date: 2018
Doi Number: 10.1002/mds.27442
Journal Name: MOVEMENT DISORDERS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.1354-1358
Keywords: dystonia, HPCA, Turkey, DYT2, mutation, ACTIVATION
Istanbul University Affiliated: Yes

Abstract

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.