PINK1-PD: A compound heterozygote of Filipino ancestry and 7 Tesla MRI findings

Jarosław Dulski; Erik H Middlebrooks; Zbigniew K Wszolek

doi:10.1016/j.parkreldis.2023.105948

PINK1-PD: A compound heterozygote of Filipino ancestry and 7 Tesla MRI findings

Parkinsonism Relat Disord. 2024 Jan:118:105948. doi: 10.1016/j.parkreldis.2023.105948. Epub 2023 Nov 30.

Authors

Jarosław Dulski¹, Erik H Middlebrooks², Zbigniew K Wszolek³

Affiliations

¹ Department of Neurology, Mayo Clinic, Jacksonville, FL, USA; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland.
² Department of Radiology, Mayo Clinic, Jacksonville, FL, USA.
³ Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. Electronic address: Wszolek.Zbigniew@mayo.edu.

PMID: 38043182
DOI: 10.1016/j.parkreldis.2023.105948

Abstract

We present a patient of Filipino ancestry with Parkinson's disease (PD) due to compound heterozygous PINK1 mutations. Neuroimaging findings from 7T MRI accurately correlated with the laterality of clinical features. Our case illustrates that more studies are needed to elucidate the genetic underpinnings of familial PD in patients of non-European ancestry.

Publication types

Case Reports
Letter

MeSH terms

Heterozygote
Humans
Magnetic Resonance Imaging
Mutation / genetics
Parkinson Disease* / diagnostic imaging
Parkinson Disease* / genetics
Protein Kinases / genetics

Substances

Protein Kinases