DYT2 screening in early-onset isolated dystonia.

Francesca Morgante, Miryam Carecchio, Chiara Reale, Federica Invernizzi, Valentina Monti, Simona Petrucci, Monia Ginevrino, Giovanna Zorzi, Federica Zibordi, Anna Rita Bentivoglio, Enza Maria Valente, Nardo Nardocci, Barbara Garavaglia

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2017;21(2):269-271

PMID: 27771228

Full Text on Elsevier Science View on PubMed

Abstract

BACKGROUND

Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term "DYT2 dystonia". Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progressive course to adulthood.

METHODS

73 patients with isolated dystonia of various distribution, manifesting within 21 years of age, were enrolled in this Italian study and underwent a mutational screening of HPCA gene by means of Sanger sequencing.

RESULTS/CONCLUSIONS

Mean age at onset was 10.2 (±5.1) years and mean age at the time of genetic testing was 33 (±14.2) years. Mean disease duration at the time of enrollment was 22.7 (±12.8) years. None of the patients enrolled was found to carry HPCA mutations, rising suspicion that these probably represent a very rare cause of dystonia in childhood-adolescence. Larger studies will help determining the real mutational frequency of this gene also in different ethnic groups.

Address: Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy; Department of Child Neurology, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy; Department of Translational Medicine, University of Milan Bicocca, Milan, Italy.; Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.; Department of Neurological Sciences, Sapienza University, Rome, Italy.; Department of Medicine and Surgery, University of Salerno, Salerno, Italy.; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Department of Child Neurology, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.; Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy. Electronic address: [email protected].

DOI: 10.1016/j.ejpn.2016.10.001

Link outs

Free resources

Medical:

https://medlineplus.gov/dystonia.html

Other Literature Sources:

https://scite.ai/reports/27771228

Subscription / membership required

Full Text Sources:

MeSH Terms: Adolescent, Adult, Age of Onset, Child, Dystonia, Female, Genetic Testing, Hippocalcin, Humans, Male, Mutation, Young Adult