Adult onset POLR3A leukodystrophy presenting with parkinsonism treated with pallidal deep brain stimulation

Parkinsonism Relat Disord. 2021 Apr:85:23-25. doi: 10.1016/j.parkreldis.2021.02.018. Epub 2021 Feb 23.

Authors

Kevin Kyle¹, Xenos Mason², Yvette Bordelon², Nader Pouratian³, Jeff Bronstein²

Affiliations

¹ Department of Neurology, Massachusetts General Hospital, United States. Electronic address: kkyle2@mgh.harvard.edu.
² Department of Neurology, UCLA David Geffen School of Medicine, United States.
³ Department of Neurosurgery, UCLA David Geffen School of Medicine, United States.

PMID: 33652360
DOI: 10.1016/j.parkreldis.2021.02.018

No abstract available

Keywords: DBS; Leukodystrophy; POLR3A; Parkinsonism.

Publication types

Case Reports
Letter

MeSH terms

Age of Onset
Deep Brain Stimulation*
Female
Globus Pallidus*
Hereditary Central Nervous System Demyelinating Diseases* / complications
Hereditary Central Nervous System Demyelinating Diseases* / diagnosis
Hereditary Central Nervous System Demyelinating Diseases* / genetics
Hereditary Central Nervous System Demyelinating Diseases* / therapy
Humans
Middle Aged
Parkinsonian Disorders* / diagnosis
Parkinsonian Disorders* / etiology
Parkinsonian Disorders* / genetics
Parkinsonian Disorders* / therapy
RNA Polymerase III / genetics*

Substances

POLR3A protein, human
RNA Polymerase III