Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12

Jessica Rossi, Francesco Cavallieri, Giada Giovannini, Carla Budriesi, Annalisa Gessani, Miryam Carecchio, Daniela Di Bella, Elisa Sarto, Jessica Mandrioli, Sara Contardi, Stefano Meletti

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)161-164
Number of pages4
JournalNeurogenetics
Volume20
Issue number3
DOIs
Publication statusPublished - Aug 7 2019

Keywords

  • Acoustic analysis
  • Ataxia
  • Dystonic tremor
  • Neurodegenerative
  • SCA12
  • Spasmodic dysphonia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Cellular and Molecular Neuroscience

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