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A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation

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A Correction to this article was published on 23 May 2023

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References

  1. Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C (2018) Genotype-phenotype relations for the Parkinson’s disease genes parkin, PINK1, DJ1: mdsgene systematic review. Mov Disord 33(5):730–741. https://doi.org/10.1002/mds.27352

    Article  PubMed  Google Scholar 

  2. Amboni M, Pellecchia MT, Cozzolino A, Picillo M, Vitale C, Barone P, Varrone A, Garavaglia B, Gambelli S, Federico A (2009) Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2. Mov Disord 24(2):303–305. https://doi.org/10.1002/mds.22342

    Article  PubMed  Google Scholar 

  3. Magistrelli L, Contaldi E, Milner AV, Gallo S, Sacchetti M, Fornaro R, Cantello R, Comi C (2022) A very early onset of juvenile parkinsonism. J Neurol 269(12):6661–6663. https://doi.org/10.1007/s00415-022-11278-6

    Article  PubMed  Google Scholar 

  4. Kawabe H, Stegmüller J (2021) The role of E3 ubiquitin ligases in synapse function in the healthy and diseased brain. Mol Cell Neurosci 112:103602. https://doi.org/10.1016/j.mcn.2021.103602

  5. Kuusimäki T, Korpela J, Pekkonen E, Martikainen MH, Antonini A, Kaasinen V (2020) Deep brain stimulation for monogenic Parkinson’s disease: a systematic review. J Neurol 267(4):883–897. https://doi.org/10.1007/s00415-019-09181-8

    Article  PubMed  Google Scholar 

  6. Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA (2022) The genetic landscape of complex childhood-onset hyperkinetic movement disorders. Mov Disord 37:2197–2209. https://doi.org/10.1002/mds.29182

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Morales-Briceno H, Fung VSC, Bhatia KP, Balint B (2022) Parkinsonism and dystonia: clinical spectrum and diagnostic clues. J Neurol Sci 433:120016. https://doi.org/10.1016/j.jns.2021.120016

  8. Pearson TS, Pons R, Ghaoui R, Sue CM (2019) Genetic mimics of cerebral palsy. Mov Disord 34(5):625–636. https://doi.org/10.1002/mds.27655

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Parkinson and Movement Disorders Unit, Study Center on Neurodegeneration (CESNE), Department of Neuroscience, University of Padua, Padua, Italy

    Federica Garrì, Leonardo Salviati, Miryam Carecchio & Angelo Antonini

  2. Department of Neurosciences, University of Padova, Padua, Italy

    Dario Ciprietti, Lisa Lerjefors, Andrea Landi, Miryam Carecchio & Angelo Antonini

  3. Unit of Neurology, Villa Margherita Nursing Home, Vicenza, Italy

    Manuela Pilleri

  4. Department of General Psychology, Study Center on Neurodegeneration (CESNE), Padova University, Padua, Italy

    Roberta Biundo

  5. Clinical Genetics Unit, Department of Women and Children’s Health, University of Padova, and Fondazione Istituto di Ricerca Pediatrica Città della Speranza, University of Padova, Padua, Italy

    Leonardo Salviati

  6. Centre for Rare Neurological Diseases (ERN-RND), Department of Neuroscience, University of Padua, Padua, Italy

    Miryam Carecchio & Angelo Antonini

Authors
  1. Federica Garrì
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  2. Dario Ciprietti
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  3. Lisa Lerjefors
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  4. Andrea Landi
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  5. Manuela Pilleri
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  6. Roberta Biundo
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  7. Leonardo Salviati
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  8. Miryam Carecchio
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  9. Angelo Antonini
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Contributions

All authors contributed to the drafting and critical review of this manuscript.

Corresponding author

Correspondence to Federica Garrì.

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Ethics approval

The authors confirm that the ethics board clearance was not required for this work. The subject has provided written video consent. We confirm that we have read the journal’s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.

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The patient has given consent for publication in scientific journal.

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The patient signed informed consent regarding publishing patient’s data and images.

Conflict of interest

No specific funding was received for this work and the authors declare that there are no conflicts of interest relevant to this work.

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The patient has given consent for publication for this journal.

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Federica Garrì and Dario Ciprietti have contributed equally to this work as first authors.

The original online version of this article was revised: The online version of the article contains an error during publication. The second video where the patient is seated on a wheelchair with pink t-shirt is supplementary video 1: Pre-DBS neurological examination. The first video with the patient seated on a chair is supplementary video 2: Post-DBS neurological examination.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary video 1. Pre-DBS neurological examination (MP4 3.82 MB)

Supplementary video 2. Post-DBS neurological examination (MP4 2.84 MB)

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Garrì, F., Ciprietti, D., Lerjefors, L. et al. A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation. Neurol Sci 44, 3323–3326 (2023). https://doi.org/10.1007/s10072-023-06832-7

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  • DOI: https://doi.org/10.1007/s10072-023-06832-7

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