DYT16: the original cases
- 1Movement Disorders Clinic, Hospital das Clínicas, Departamento de Clínica, Médica, Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
- 2Reta Lila Weston Institute of Neurological Studies, University College London, London, UK
- 3Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
- Correspondence to Professor Francisco Cardoso, Avenida Pasteur Av 89/1107. 30150-290 Belo Horizonte, MG Brazil;
Contributors SC: examination of patients, genetic studies, draft of the manuscript. AL: examination of patients, draft of the manuscript. AS: genetic studies, draft of the manuscript. FC: examination of patients, draft of the manuscript, supervision of the study.
- Received 3 April 2012
- Revised 22 May 2012
- Accepted 13 June 2012
- Published Online First 28 July 2012
Objective DYT16 is an autosomal recessive dystonia-parkinsonism due to putative mutations at PRKRA gene. The aim of this study was to describe clinical features providing video documentation of patients with DYT16 dystonia.
Methods We examined and videotaped all homozygous carriers of the DYT16 gene.
Results We identified two phenotypes, generalised dystonia and dystonia-parkinsonism non-responsive to levo-dopa, with three patients belonging to each of the groups. There was inter-individual and intra-family phenotypic heterogeneity.
Conclusions DYT16 is a rare autosomal recessive dystonia characterised by generalised dystonia or dystonia-parkinsonism. Patients are refractory to pharmacological therapy.
Funding FC has received honoraria from Boehringer-Ingelheim, Novartis and Roche; and a research grant from FAPEMIG. SC has received honoraria from Boehringer-Ingelheim and Roche.
Competing interests None.
Patient consent Obtained.
Ethics approval Ethics approval was provided by Ethics Committee of the Federal University of Minas Gerais.
Provenance and peer review Not commissioned; externally peer reviewed.