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Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation

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Abstract

Spinocerebellar ataxia (SCA)19/22 is a channelopathy caused by mutations in the KCND3 gene encoding for the voltage-gated potassium channel Kv4.3. In the present work, we report an Italian family harboring a novel KCND3 missense mutation characterized by ataxia and mild parkinsonism. Patients underwent dopamine transporter single-photon emission computed tomography to assess dopaminergic degeneration. Normal findings were observed, and treatment with levodopa did not yield any benefit, thus suggesting the involvement of other mechanisms to explain parkinsonian symptoms in SCA19/22. Our cases expand the genetic and imaging spectrum of this rare disease and emphasize a cautious approach in managing parkinsonism in these patients.

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Author information

Authors and Affiliations

  1. Movement Disorders Centre, Neurology Unit, Department of Translational Medicine, University of Piemonte Orientale, Corso Mazzini 18, 28100, Novara, Italy

    Elena Contaldi, Silvia Gallo & Luca Magistrelli

  2. PhD Program in Medical Sciences and Biotechnology, University of Piemonte Orientale, 28100, Novara, Italy

    Elena Contaldi

  3. Department of Health Sciences, Centre of Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale, 28100, Novara, Italy

    Lucia Corrado & Sandra D’Alfonso

Authors
  1. Elena Contaldi
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  2. Silvia Gallo
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  3. Lucia Corrado
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  4. Sandra D’Alfonso
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  5. Luca Magistrelli
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Contributions

All authors contributed to the study’s conception and design. Material preparation and data collection were performed by EC, SG, LC, SDA, and LM. The first draft of the manuscript was written by EC, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Elena Contaldi.

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All study procedures were performed in accordance with the ethical standards of the 1964 Declaration of Helsinki and its later amendments. The authors confirm that they have read the journal’s position on issues involved in ethical publication and confirm that this work is consistent with those guidelines.

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Written informed consent was obtained from the participants included in the study.

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The authors declare no competing interests.

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Contaldi, E., Gallo, S., Corrado, L. et al. Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation. Cerebellum (2023). https://doi.org/10.1007/s12311-023-01619-0

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  • DOI: https://doi.org/10.1007/s12311-023-01619-0

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