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Case Reports
. 2025 Oct 10.
doi: 10.1002/acn3.70225. Online ahead of print.

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies

Caterina Del Regno  1   2 , Giovanni Ermanis  1   2 , Christian Lettieri  1   2 , Andrea Bernardini  1   2 , Gaia Pellitteri  1   2 , Enrico Belgrado  3 , Elena Betto  4 , Gian Luigi Gigli  1   2 , David De Monte  1   2 , Marco Domenico Scanni  1   2 , Marco Mucchiut  3 , Giuseppe Damante  2   4 , Mariarosaria Valente  1   2 , Francesco Janes  1   2
Affiliations
Free article
Case Reports

RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies

Caterina Del Regno et al. Ann Clin Transl Neurol. .
Free article

Abstract

Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early-onset PD associated with intellectual disability (Waisman's syndrome). Here we describe a 45-year-old white male affected by developmental delay, childhood onset intellectual disability, epilepsy, and PD who was treated with subthalamic deep brain stimulation and subcutaneous L-DOPA infusion. Next Generation Sequencing analysis revealed a currently unknown pathogenic hemizygous sequence variant c.463C>T (NM_171998.4) in the RAB39B gene, confirmed also in the proband's mother, affected by late-onset PD. This report expands the number of described RAB39B mutations in individuals with early- and late-onset, X-linked PD.

Keywords: RAB39B; DBS; Parkinson's disease; Waisman's syndrome; X‐linked Parkinson's disease.

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