Format

Send to

Choose Destination
Parkinsonism Relat Disord. 2018 Mar;48:93-96. doi: 10.1016/j.parkreldis.2017.12.015. Epub 2017 Dec 13.

The prevalence of PRKRA mutations in idiopathic dystonia.

Author information

1
Hospital Israelita Albert Einstein, Sao Paulo, SP, Brazil.
2
Department of Neurology, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
3
Hospital do Servidor Público Estadual, Sao Paulo, SP, Brazil; Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil.
4
Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil.
5
Hospital Santa Marcelina, Sao Paulo, SP, Brazil.
6
Hospital Israelita Albert Einstein, Sao Paulo, SP, Brazil; Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil. Electronic address: patriciamc@einstein.br.

Abstract

INTRODUCTION:

DYT-PRKRA (DYT16) is considered a rare cause of dystonia-parkinsonism. The significance of this gene as a cause of dystonia and its phenotypical characterization must be determined in larger cohorts. We aimed to investigate the role of PRKRA in patients with dystonia.

METHODS:

We sequenced PRKRA in 153 unrelated Brazilian patients with idiopathic dystonia. The frequency of novel missense variants was investigated in healthy Brazilian controls and in public databases. Homozygosity in the PRKRA region was assessed through polymorphic markers.

RESULTS:

PRKRA variants were identified in seven probands with isolated dystonia, including a novel c.C795A variant in compound heterozygosity with the previously described c.C665T variant. Heterozygosity in the gene region was observed in two probands who were homozygous for c.C665T, indicating that this mutation originated from independent events, suggesting a hotspot.

CONCLUSION:

PRKRA is not an unusual cause of idiopathic dystonia. In this cohort, it was responsible for 4.5% of the total of cases (4.9% of the isolated dystonia cases). The most common phenotype was early-onset isolated focal dystonia followed by generalization, parkinsonism was not observed. This is first report of PRKRA causing adulthood-onset dystonia. Screenings of large cohorts are recommended to investigate the role of this gene in isolated dystonia, as well as in dystonia-parkinsonism cases worldwide.

KEYWORDS:

DYT16; Dystonia; Dystonia-parkinsonism; Genetics; PRKRA

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center