A case of rapid-onset dystonia-parkinsonism accompanied by pyramidal tract impairment
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s12883-016-0743-8.pdf
Reference24 articles.
1. De Carvalho AP, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, et al. Mutations in the Na+/K + −ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004;43:169–75.
2. Oblak AL, Hagen MC, Sweadner KJ, Haq I, Whitlow CT, Maldjian JA, et al. Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings. Acta Neuropathol. 2014;128:81–98.
3. Brashear A, Dobyns WB, De Carvalho AP, Borg M, Frijns CJ, Gollamudi S, et al. The phenotypic spectrum of Rapid-onset Dystonia-Parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain J Neurol. 2007;130:828–35.
4. Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, et al. The expanding clinical and genetic spectrum of ATP1A3-related disorders. Neurology. 2014;82:945–55.
5. Dobyns WB, Ozelius LJ, Kramer PL, Brashear A, Farlow MR, Perry TR, et al. Rapid-onset dystonia-parkinsonism. Neurology. 1993;43:2596–602.
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1. ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis;Frontiers in Aging Neuroscience;2022-08-01
2. Atypical presentation of rapid-onset dystonia–parkinsonism in a toddler with a novel mutation in the ATP1A3 gene;BMJ Case Reports;2021-08
3. ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum;Frontiers in Neurology;2021-04-01
4. Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia;Brain and Development;2021-04
5. Untangling the complicated web of ATP1A3 mutations;Parkinsonism & Related Disorders;2020-09
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