Journal of neurology, neurosurgery, and psychiatry · 2012
DYT16: the original cases.
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАVideo-Audio MediaНазвание и аннотация: Перевод пока не подготовлен
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Camargos Sarah, Lees Andrew J, Singleton Andrew, Cardoso Francisco
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultAge of OnsetAnti-Dyskinesia AgentsAntiparkinson AgentsBaclofenBiperidenBotulinum ToxinsCarbidopaChildChild, PreschoolCholinergic AntagonistsDrug CombinationsDrug ResistanceDystoniaDystonic DisordersFemaleHumansLevodopaMaleMiddle AgedMuscle Relaxants, CentralMutationParkinsonian DisordersPedigreePhenotypeRNA-Binding ProteinsSpeech DisordersTrihexyphenidylYoung Adult