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Article

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

Parkinsonism & related disorders - 1 Nov 2023

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

Abstract excerpt

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...

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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