Inter and intra-generational phenotypic variability in a Portuguese family with DYT-GCH1

Maria João Pinto; Francisco Sabença; Carolina Soares; Ana Oliveira; Maria José Rosas

doi:10.1016/j.parkreldis.2021.04.004

Inter and intra-generational phenotypic variability in a Portuguese family with DYT-GCH1

Parkinsonism Relat Disord. 2021 May:86:81-83. doi: 10.1016/j.parkreldis.2021.04.004. Epub 2021 Apr 18.

Authors

Maria João Pinto¹, Francisco Sabença², Carolina Soares³, Ana Oliveira³, Maria José Rosas⁴

Affiliations

¹ Neurology Department, Centro Hospitalar Universitário de São João, E.P.E, Porto, Portugal; Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Portugal. Electronic address: maria.jcs.pinto@gmail.com.
² Neurology Department, Centro Hospitalar Vila Nova de Gaia/Espinho, E.P.E, Portugal.
³ Neurology Department, Centro Hospitalar Universitário de São João, E.P.E, Porto, Portugal; Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Portugal.
⁴ Neurology Department, Centro Hospitalar Universitário de São João, E.P.E, Porto, Portugal.

PMID: 33878570
DOI: 10.1016/j.parkreldis.2021.04.004

Abstract

DYT-GCH1 is the most common form of Dopa-responsive dystonia. We analysed a three-generation Portuguese family with the same variant of DYT-GCH1. Dystonia and parkinsonism were found, along with non-motor symptoms. There was a wide array of phenotypic manifestations. Further studies are needed to explain the wide clinical expression of this entity.

Keywords: DYT-GCH1; DYT5a; Dopa-responsive; Dystonia; GCH1.

Publication types

Letter

MeSH terms

Adult
Aged, 80 and over
Biological Variation, Population*
Dystonic Disorders* / genetics
Female
GTP Cyclohydrolase / genetics
Humans
Male
Middle Aged
Pedigree
Portugal
White People / genetics
Young Adult

Substances

GCH1 protein, human
GTP Cyclohydrolase

Supplementary concepts

Dystonia, Dopa-responsive