Isolated Paroxysmal Non-kinesigenic Dystonia Associated with Homozygous PDHB Variant in an Indian Family

Mov Disord. 2022 Oct;37(10):2166-2167. doi: 10.1002/mds.29158. Epub 2022 Jul 15.

Authors

Pankaj A Agarwal^{1

2

3}, Demy J S Kuipers⁴, Christina Fevga⁴, Shruti Agrawal³, Sangeeta H Ravat^{2

3}, Guido J Breedveld⁴, Kapil Sethi⁵, Vincenzo Bonifati⁴

Affiliations

¹ Movement Disorders Clinic, Department of Neurology, Global Hospitals, Mumbai, India.
² Department of Neurology, Global Hospitals, Mumbai, India.
³ Department of Neurology, Seth GS Medical College and KEM Hospital, Mumbai, India.
⁴ Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
⁵ Medical College of Georgia, Augusta University, Augusta, Georgia, USA.

PMID: 35838632
DOI: 10.1002/mds.29158

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Asian People
Dystonia* / complications
Dystonia* / genetics
Homozygote
Humans
Nerve Tissue Proteins / genetics

Substances

Nerve Tissue Proteins