Objective: To describe a patient with PD and hypersexual disorder carrying a GBA variant.

Background: Compulsive sexual behavior occurs in 4% of patients with Parkinson’s disease (PD), and it seems to be more common in males with early-onset disease and high doses of dopaminergic therapy. Hypersexual disorder is characterized when this compulsive behavior causes functional impairment. GBA variants are the main genetic risk factors for the development of PD, and may cause a more aggressive disease progression.

Method: Case report.

Results: We report a 55 years old man with hypersexual disorder associated with a GBA variant. His first symptom was rigidity in the left upper limb at 37 years old, and a clinical diagnosis of PD one year later. He started using pramipexole, being after changed by levodopa, amantadine, and biperiden at the age of 41, which were used until evaluation. His maternal aunt had a diagnosis of PD, and he had not Jewish ancestry. At the evaluation, he complained about his behavior and compulsive thoughts on sex. He always used his sexual fantasies and behaviors to deal with uncomfortable feelings, and frequently spent a large part of his time in sexual fantasies or sexual behavior. He also reported that he was not able to reduce his sexual fantasies or behaviors. He described the use of pornographic material, engaging in consensual sexual behavior with adults, and attending striptease clubs. On the quality of life, his Parkinson Disease Questionnaire–39 Summary Index score was 62.8. At the evaluation, he was using levodopa 1.250 mg/day, amantadine 200 mg/day, and biperiden 4 mg/day. The motor MDS-UPDRS score was 43 (moderate impairment), and he had a Hoehn & Yahr 2 staging. For 8 years, he was dealing with troublesome motor fluctuations and dyskinesias. On cognition, his Montreal Cognitive Assessment score was 29 (11 years of education). The total Sexual Compulsivity Score was 32 points (minimum 10, maximum 40), and according to the Hypersexual Disorder Screening Inventory, he had a probable diagnosis of hypersexual disorder. After reduction of levodopa dose and a short period of psychotherapy, the patient described a reduction in the compulsive sexual behavior. Genetic testing showed the patient was heterozygote for E326K variant in GBA.

Conclusion: Even being at high risk for impulsive control disorders (male, early-onset disease with high levodopa dose), GBA variants may have a role in compulsive sexual behavior.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/hypersexual-disorder-in-gba-associated-parkinsons-disease-case-report/