Patient Selection for Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration

Jason L Chan; Ashley E Rawls; Joshua K Wong; Penelope Hogarth; Justin D Hilliard; Michael S Okun

doi:10.5334/tohm.929

Patient Selection for Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration

Tremor Other Hyperkinet Mov (N Y). 2024 Oct 17:14:51. doi: 10.5334/tohm.929. eCollection 2024.

Authors

Jason L Chan^{1

2}, Ashley E Rawls^{1

2}, Joshua K Wong^{1

2}, Penelope Hogarth³, Justin D Hilliard^{1

4}, Michael S Okun^{1

2}

Affiliations

¹ Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.
² Department of Neurology, University of Florida, Gainesville, Florida, USA.
³ Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.
⁴ Department of Neurosurgery, University of Florida, Gainesville, Florida, USA.

Abstract

Clinical vignette: A 23-year-old woman with pantothenate kinase-associated neurodegeneration (PKAN) presented with medication-refractory generalized dystonia and an associated gait impairment.

Clinical dilemma: Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) can be an effective treatment for dystonia. However, outcomes for PKAN DBS have been variable and there are no standardized criteria for patient selection.

Clinical solution: Bilateral GPi DBS implantation resulted in improvement in dystonia and gait. The benefit has persisted over one year after implantation.

Gap in knowledge: PKAN is a rare neurodegenerative disorder and evidence supporting the use of PKAN DBS has been largely limited to case reports and case series. Consequently, there is a paucity of long-term data, especially on gait-related outcomes.

Expert commentary: The clinical characteristics of dystonia that respond to DBS tend to respond in PKAN. Clinicians counselling patients about the effects of DBS for PKAN should thoughtfully discuss gait and postural instability as important aspects to consider, especially as the disease will progress post-DBS.

Keywords: DYT-PANK2; globus pallidus internus; medication refractory dystonia; neurodegeneration with brain iron accumulation; neuromodulation.

Publication types

Case Reports

MeSH terms

Deep Brain Stimulation* / methods
Dystonia / physiopathology
Dystonia / therapy
Female
Gait Disorders, Neurologic / etiology
Gait Disorders, Neurologic / therapy
Globus Pallidus*
Humans
Pantothenate Kinase-Associated Neurodegeneration* / therapy
Patient Selection*
Young Adult

Grants and funding

JLC was supported by a Parkinson’s Foundation Institutional Movement Disorders Fellowship. AER has participated in CME and educational activities on movement disorders sponsored by Mediflix. JKW has received research support from the NIH. MSO serves as Medical Advisor for the Parkinson’s Foundation and has received research grants from the NIH, Parkinson’s Foundation, Michael J. Fox Foundation, Parkinson Alliance, Smallwood Foundation, Bachmann-Strauss Foundation, Tourette Syndrome Association, and UF Foundation. He has received royalties for publications with the Hatchette Book Group, Demos, Manson, Amazon, Smashwords, Books4Patients, Perseus, Robert Rose, Oxford and Cambridge. MSO is an associated editor for New England Journal of Medicine Journal Watch Neurology and JAMA Neurology. He has participated in CME and educational activities on movement disorders sponsored by WebMD/Medscape, RMEI Medical Education, the American Academy of Neurology, the International Parkinson and Movement Disorder Society, Mediflix, and Vanderbilt University. The institution and not MSO receives grants from industry. He has participated as a site PI and/or co-I for several NIH, foundation, and industry sponsorted trials over the years, but has not received honoraria. Research projects at the University of Florida receive device and drug donations.