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DYT16: the original cases.

ABSTRACT: 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.

SUBMITTER: Camargos S

PROVIDER: S-EPMC6376866 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature

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DYT16: the original cases.

Camargos Sarah S Lees Andrew J AJ Singleton Andrew A Cardoso Francisco F

Journal of neurology, neurosurgery, and psychiatry 20120728 10

<h4>Objective</h4>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.<h4>Methods</h4>We examined and videotaped all homozygous carriers of the DYT16 gene.<h4>Results</h4>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 ...[more]

PMID: 22842711

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