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

Movement Disorders : Official Journal of the Movement Disorder Society
Burcu AtasuEbba Lohmann

Abstract

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. After detailed clinical and neurological examination, whole-exome sequencing was performed. 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. 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.

References

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Feb 20, 2016·Nature Reviews. Endocrinology·Michael P Whyte
May 5, 2016·Movement Disorders : Official Journal of the Movement Disorder Society·Valerija DobričićVladimir S Kostić
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium
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Citations

Mar 14, 2019·ELife·Ko-Fan ChenJames Jepson
Apr 17, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Bettina BalintKailash P Bhatia
Mar 6, 2019·Cold Spring Harbor Perspectives in Biology·Robert D BurgoyneLee P Haynes
Sep 6, 2020·Brain : a Journal of Neurology·Niccolò E MencacciMina Ryten
Apr 3, 2020·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Kubra Serefoglu CabukMuhittin Taskapili
Nov 29, 2020·Journal of Neural Transmission·Aloysius DomingoLaurie J Ozelius
Jan 28, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Lara M LangeKatja Lohmann
Feb 11, 2021·Current Neurology and Neuroscience Reports·Ignacio Juan Keller Sarmiento, Niccolò Emanuele Mencacci
Feb 5, 2021·The Journal of Clinical Investigation·Niccolò E MencacciClaudio Acuna
Jul 16, 2021·Current Neurology and Neuroscience Reports·Sanjay PandeyShreya Dinesh

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