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.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Video-Audio Media
MeSH terms
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Adolescent
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Adult
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Age of Onset
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Anti-Dyskinesia Agents / administration & dosage*
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Antiparkinson Agents / administration & dosage
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Baclofen / administration & dosage
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Biperiden / administration & dosage
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Botulinum Toxins / administration & dosage
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Carbidopa / administration & dosage
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Child
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Child, Preschool
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Cholinergic Antagonists / administration & dosage
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Drug Combinations
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Drug Resistance
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Dystonia / genetics
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Dystonia / physiopathology
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Dystonic Disorders / genetics*
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Dystonic Disorders / physiopathology*
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Female
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Humans
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Levodopa / administration & dosage
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Male
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Middle Aged
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Muscle Relaxants, Central / administration & dosage
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Mutation*
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Parkinsonian Disorders / genetics*
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Parkinsonian Disorders / physiopathology*
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Pedigree
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Phenotype
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RNA-Binding Proteins / genetics*
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Speech Disorders / genetics
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Trihexyphenidyl / administration & dosage
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Young Adult
Substances
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Anti-Dyskinesia Agents
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Antiparkinson Agents
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Cholinergic Antagonists
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Drug Combinations
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Muscle Relaxants, Central
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PRKRA protein, human
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RNA-Binding Proteins
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carbidopa, levodopa drug combination
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Biperiden
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Levodopa
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Trihexyphenidyl
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Botulinum Toxins
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Baclofen
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Carbidopa