Rapid-onset dystonia-parkinsonism (RDP) is a rare condition with autosomal-dominant inheritance causing dystonia and parkinsonism which develop over a short period of time. It results from abnormalities in the Na(+)/K(+)-ATPase pump due to mutations in the ATP1A3 gene. This chapter reviews the clinical features, genetics, and diagnosis of this disorder.
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Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over time.
Parkinsonism Relat Disord
December 2024
Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA. Electronic address:
Introduction: The onset of symptoms in Rapid-onset dystonia-parkinsonism (RDP) is typically over days to weeks and is often triggered by stressors like fever or childbirth. Limited information is available on how the motor and nonmotor symptoms evolve over the course of the disease. Our longitudinal study analyzed data from a cohort of RDP patients, documenting their symptoms across multiple visits.
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Brain
November 2024
Science for Life Laboratory, Department of Women's and Children's Health, Karolinska Institutet, Solna, 171 21, Sweden.
Mutations in the gene encoding the alpha3 Na+/K+-ATPase isoform (ATP1A3) lead to movement disorders that manifest with dystonia, a common neurological symptom with many different origins, but for which the underlying molecular mechanisms remain poorly understood. We have generated an ATP1A3 mutant mouse that displays motor impairments and a hyperexcitable motor phenotype compatible with dystonia. We show that neurons harboring this mutation are compromised in their ability to extrude raised levels of intracellular sodium, highlighting a profound deficit in neuronal sodium homeostasis.
View Article and Find Full Text PDFIntroduction: We previously reported that ATP1A3 c.823G>C (p.Ala275Pro) mutant causes varying phenotypes of alternative hemiplegia of childhood and rapid-onset dystonia-parkinsonism in the same family.
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eNeuro
August 2024
Department of Neurosurgery, Massachusetts General Hospital, Boston, Massachusetts 02114
is a Na,K-ATPase gene expressed specifically in neurons in the brain. Human mutations are dominant and produce an unusually wide spectrum of neurological phenotypes, most notably rapid-onset dystonia parkinsonism (RDP) and alternating hemiplegia of childhood (AHC). Here we compared heterozygotes of two mouse lines, a line with little or no expression (3) and a knock-in expressing p.
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