Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation

Can J Neurol Sci. 2021 May;48(3):433-434. doi: 10.1017/cjn.2020.204. Epub 2020 Sep 22.

Authors

Steven A Gunzler¹, Suzanne D DeBrosse²

Affiliations

¹ Parkinson's and Movement Disorders Center, Neurological Institute, University Hospitals Cleveland Medical Center and Case Western Reserve University, Cleveland, OH44106, USA.
² Center for Human Genetics, University Hospitals Cleveland Medical Center and Case Western Reserve University, Cleveland, OH44106, USA.

PMID: 32959737
DOI: 10.1017/cjn.2020.204

No abstract available

Keywords: Ataxia; Dystonia; Epilepsy; Genetic; Myoclonus; NUS1.

Publication types

Case Reports
Letter

MeSH terms

Dystonia* / diagnostic imaging
Dystonia* / genetics
Dystonic Disorders* / diagnostic imaging
Dystonic Disorders* / genetics
Humans
Mutation / genetics
Myoclonus*
Phenotype
Receptors, Cell Surface / genetics

Substances

NUS1 protein, human
Receptors, Cell Surface