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Neurological Sciences

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01-09-2017 | LETTER TO THE EDITOR

A Portuguese rapid-onset dystonia-parkinsonism case with atypical features

Authors: Ana Luísa Sousa, Isabel Alonso, Marina Magalhães

Published in: Neurological Sciences | Issue 9/2017

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Tan AH, Ozelius LJ, Brashear A et al (2015) Rapid-onset dystonia-parkinsonism in a Chinese girl with a de novo ATP1A3 c.2267G>A (p.R756H) genetic mutation. Mov Disord Clin Pract 2(1):74–75. doi:10.1002/mdc3.12122 CrossRef

Brashear A, Wink JW, Hill DF et al (2012) ATP1A3 mutations in infants: a new rapid-onset dystonia-parkinsonism phenotype characterized by motor delay and ataxia. Dev Med Child Neurol 54(11):1065–1067. doi:10.1111/j.1469-8749.2012.04421.x CrossRefPubMedPubMedCentral

Sweney MT, Newcomb TM, Swoboda KJ (2015) The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, CAPOS and beyond. Pediatr Neurol 52(1):56–64. doi:10.1016/j.pediatrneurol.2014.09.015 CrossRefPubMed

Boelman C, Lagman-Bartolome AM, MacGregor DL, McCabe J, Logan WJ, Minassian BA (2014) Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. Pediatr Neurol 51(6):850–853. doi:10.1016/j.pediatrneurol.2014.08.015 CrossRefPubMed

Balint B, Bhatia KP (2015) Isolated and combined dystonia syndromes—an update on new genes and their phenotypes. Eur J Neurol 22(4):610–617. doi:10.1111/ene.12650 CrossRefPubMed

Title: A Portuguese rapid-onset dystonia-parkinsonism case with atypical features
Authors: Ana Luísa Sousa
Isabel Alonso
Marina Magalhães
Publication date: 01-09-2017
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 9/2017
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-017-2996-4

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A Portuguese rapid-onset dystonia-parkinsonism case with atypical features

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Keynote webinar | Spotlight on medication adherence

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