TPK1 mutation induced childhood onset idiopathic generalized dystonia: Report of a rare mutation and effect of deep brain stimulation

J Neurol Sci. 2017 May 15:376:42-43. doi: 10.1016/j.jns.2017.02.063. Epub 2017 Mar 1.

Authors

Abhimanyu Mahajan¹, Christos Sidiropoulos²

Affiliations

¹ Department of Neurology, Henry Ford Hospital, Detroit, MI, United States. Electronic address: [email protected].
² Department of Neurology, Henry Ford Hospital, Detroit, MI, United States.

PMID: 28431625
DOI: 10.1016/j.jns.2017.02.063

No abstract available

Keywords: Childhood onset generalized dystonia; Genetic dystonia; Movement disorders; Thiamine.

Publication types

Case Reports

MeSH terms

Brain / diagnostic imaging
Deep Brain Stimulation*
Dystonic Disorders / diagnostic imaging
Dystonic Disorders / genetics*
Dystonic Disorders / therapy*
Humans
Male
Mutation*
Thiamin Pyrophosphokinase / genetics*
Young Adult

Substances

Thiamin Pyrophosphokinase