Novel RAB39B variant associated intellectual disability and levodopa-responsive young-onset parkinsonism

Ali Abusrair; Adriana Mititelu; Gerald Pfeffer; Lisa Rosenegger; Camila C Aquino

doi:10.1016/j.parkreldis.2023.105855

Novel RAB39B variant associated intellectual disability and levodopa-responsive young-onset parkinsonism

Parkinsonism Relat Disord. 2023 Nov:116:105855. doi: 10.1016/j.parkreldis.2023.105855. Epub 2023 Sep 30.

Authors

Ali Abusrair¹, Adriana Mititelu¹, Gerald Pfeffer², Lisa Rosenegger³, Camila C Aquino⁴

Affiliations

¹ Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Canada; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.
² Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Canada; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada; Alberta Child Health Research Institute, Department of Medical Genetics, University of Calgary, Calgary, Canada.
³ Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Canada.
⁴ Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Canada; Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada. Electronic address: camila.aquino@ucalgary.ca.

PMID: 37844350
DOI: 10.1016/j.parkreldis.2023.105855

Abstract

We report a 37-year-old Caucasian male with history of developmental delay, childhood onset Intellectual Disability (ID) and attention deficit hyperactivity disorder (ADHD) who presented at the age of 34 with tremor-dominant parkinsonism. Next Generation Sequencing (NGS) revealed pathogenic hemizygous sequence variant, c.200G > T, in the RAB39B gene. This report expands the number of described individuals with young onset PD associated with RAB39B mutation.

Keywords: Intellectual disability; Monogenic parkinsonism; Parkinson's disease; RAB39B.

Publication types

Case Reports

MeSH terms

Adult
Child
Humans
Intellectual Disability* / genetics
Levodopa
Male
Mutation / genetics
Parkinson Disease* / genetics
Parkinsonian Disorders* / drug therapy
Parkinsonian Disorders* / genetics

Substances

Levodopa