NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor

Neurol Sci. 2020 Oct;41(10):2989-2991. doi: 10.1007/s10072-020-04443-0. Epub 2020 May 5.

Authors

Vittorio Riso¹, S Rossi², A Perna², T Nicoletti², L Bosco³, G Zanni³, G Silvestri²

Affiliations

¹ Area of Neuroscience, Fondazione Policlinico Universitario A. Gemelli IRCSS, Rome, Italy. vriso90@gmail.com.
² Area of Neuroscience, Fondazione Policlinico Universitario A. Gemelli IRCSS, Rome, Italy.
³ Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.

PMID: 32367327
DOI: 10.1007/s10072-020-04443-0

No abstract available

Publication types

Letter

MeSH terms

Adult
Humans
Mutation / genetics
Protein Kinase C / genetics
Spinocerebellar Ataxias*
Tremor* / genetics

Substances

protein kinase C gamma
Protein Kinase C