HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.

Autor: Atasu B; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Hanagasi H; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Bilgic B; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Pak M; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Erginel-Unaltuna N; Aziz Sancar Institute for Experimental Medicine, Genetics Department, Istanbul University, Istanbul, Turkey., Hauser AK; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Guven G; Aziz Sancar Institute for Experimental Medicine, Genetics Department, Istanbul University, Istanbul, Turkey., Simón-Sánchez J; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Heutink P; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Gasser T; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Lohmann E; German Center for Neurodegenerative Diseases (DZNE)-Tübingen, Tübingen, Germany.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Jazyk: angličtina
Zdroj: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2018 Aug; Vol. 33 (8), pp. 1354-1358. Date of Electronic Publication: 2018 Aug 25.
DOI: 10.1002/mds.27442
Abstrakt: 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.
Methods: After detailed clinical and neurological examination, whole-exome sequencing was performed.
Results: Whole-exome sequencing analysis revealed two homozygous novel truncating mutations (p.W103* and p.P10PfsTer80) in the HPCA gene in two unrelated Turkish dystonia families presenting with complex dystonia.
Conclusions: After identification of HPCA as a genetic cause of DYT-HPCA-like dystonia by Charlesworth et al, this is the second report in the scientific literature that describes dystonia families harboring HPCA mutations. Our findings confirm that HPCA leads to recessively inherited dystonia. © 2018 International Parkinson and Movement Disorder Society.
(© 2018 International Parkinson and Movement Disorder Society.)
Databáze: MEDLINE
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