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Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12

  • Jessica RossiEmail author
  • Francesco Cavallieri
  • Giada Giovannini
  • Carla Budriesi
  • Annalisa Gessani
  • Miryam Carecchio
  • Daniela Di Bella
  • Elisa Sarto
  • Jessica Mandrioli
  • Sara Contardi
  • Stefano Meletti
Short Communication

Abstract

Autosomal dominant spinocerebellar ataxia (SCA) type 12 is a rare SCA characterized by a heterogeneous phenotype. Action tremor of the upper limbs is the most common presenting sign and cerebellar signs can appear subsequently. In many cases, minor signs, like dystonia, can be predominant even at onset. Laryngeal dystonia (spasmodic dysphonia) has been observed only in one case of SCA12 and never reported at disease onset. We present a 61-year-old female who developed spasmodic dysphonia followed by dystonic tremor and subsequent ataxia diagnosed with SCA12. Thus, spasmodic dysphonia can be a presenting symptom of SCA12.

Keywords

Acoustic analysis Ataxia Dystonic tremor Neurodegenerative SCA12 Spasmodic dysphonia 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Written informed consent was obtained from all individual participants for whom identifying information is included in this article.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Jessica Rossi
    • 1
    • 2
    Email author
  • Francesco Cavallieri
    • 3
    • 4
  • Giada Giovannini
    • 2
  • Carla Budriesi
    • 1
    • 2
  • Annalisa Gessani
    • 2
  • Miryam Carecchio
    • 5
  • Daniela Di Bella
    • 6
  • Elisa Sarto
    • 6
  • Jessica Mandrioli
    • 2
  • Sara Contardi
    • 2
  • Stefano Meletti
    • 1
    • 2
  1. 1.Department of Biomedical, Metabolic, and Neural SciencesUniversity of Modena and Reggio EmiliaModenaItaly
  2. 2.Unit of NeurologyAOU ModenaModenaItaly
  3. 3.Neuromotor & Rehabilitation Department, Neurology UnitAzienda USL-IRCCS of Reggio EmiliaReggio EmiliaItaly
  4. 4.Clinical and Experimental Medicine PhD ProgramUniversity of Modena and Reggio EmiliaModenaItaly
  5. 5.Department of NeuroscienceUniversity of PaduaPaduaItaly
  6. 6.Medical Genetics and Neurogenetics UnitFondazione IRCCS Istituto Neurologico “C. Besta”MilanItaly

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