Abstract Details

Title Genetic Influences in DBS: Motor and Cognitive Outcomes by Genetic Profile in Parkinson’s Disease

Topic Movement Disorders

Presentation(s) P2 - Poster Session 2 (8:00 AM-9:00 AM)

Poster/Presentation
Number 5-030

Objective To explore motor and neuropsychological outcomes in Parkinson's disease (PD) patients undergoing deep brain stimulation (DBS), with a focus on genetic variability.

Background Deep brain stimulation (DBS) effectively manages motor symptoms in advanced Parkinson’s disease (PD), but cognitive effects may vary by genetic subgroup.

Design/Methods We analyzed 11 PD patients with pathogenic variants from the PDgene database who underwent DBS at our center. Assessments included the Movement Disorder Society Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) post-DBS (meds on, stim on) and Levodopa Equivalent Daily Dose (LEDD) pre/post-DBS. We conducted six-month pre/post neuropsychological evaluations of mental status, executive function, attention, processing speed, and language.

Results

Motor improvements were noted across all genetic groups post-DBS. LRRK2 patients (N=3;median age:55.5 for females,78 for males) with STN targets had a 31.5% LEDD reduction and an 81.4% MDS-UPDRS improvement (44.7 to 8.33). Variants included G2019S (2 patients) and R1441C (1 patient). GBA patients (N=4;median age:66 for females, 53 for males) also with STN showed a 52.1% LEDD reduction and a 53.1% MDS-UPDRS improvement (52.8 to 24.8). Variants included L444P, E326K, N370S, and p.Trp420. PRKN patients (N=3; ages:47 for females, 59.5 for males), with one STN and two GPi targets, had a 33.8% LEDD reduction and a 70.3% MDS-UPDRS improvement (66.7 to 19.8). Variants included two with Exon 2 deletions and one with p.N52Mfs*29.

Cognitive outcomes were assessed in three patients. The LRRK2 patient’s MMSE remained at 29, while a male GBA patient’s MMSE declined (26 to 16). A female GBA patient showed declines in phonemic fluency and abstract reasoning, but both improved in depressive symptoms and anxiety

Conclusions These findings suggest that DBS may improve motor symptoms in genetic subgroups, while cognitive outcomes vary. The small sample size and short follow-up limit generalizability. Further research is needed to understand the long-term impacts of DBS on genetic profiles.

Authors/Disclosures
Claire Alcus PRESENTER	Miss Alcus has nothing to disclose.
Viviana Torres Ballesteros, Other	Ms. Torres Ballesteros has nothing to disclose.
Matthew Feldman, MD	Dr. Feldman has nothing to disclose.
Marina Sarno, Other (University of Miami Department of Neurology)	Dr. Sarno has nothing to disclose.
Aidan T. Kunju (University of Miami Miller School of Medicine)	Mr. Kunju has nothing to disclose.
Lucila Hernandez (University of Miami)	Lucila Hernandez has nothing to disclose.
Ihtsham Haq, MD, FAAN (University of Miami Miller School of Medicine)	The institution of Dr. Haq has received research support from NINDS. The institution of Dr. Haq has received research support from the Parkinson's Foundation.
Danielle S. Shpiner, MD	An immediate family member of Dr. Shpiner has received personal compensation for serving as an employee of University of Miami. Dr. Shpiner has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for Mission MSA. The institution of Dr. Shpiner has received research support from American Parkinson's Disease Association. The institution of Dr. Shpiner has received research support from CurePSP. The institution of Dr. Shpiner has received research support from Parkinson's Foundation. Dr. Shpiner has a non-compensated relationship as a COE Medical Director with Parkinson's Foundation that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Medtronic that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Boston Scientific that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Abbott that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Abbvie that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Ipsen that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Amneal that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Michael J. Fox Foundation that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a CoC Medical Director with CurePSP that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a COE Medical Director with Mission MSA that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Merz that is relevant to AAN interests or activities.
Corneliu C. Luca, MD (University of Miami)	Dr. Luca has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Boston Scientific. Dr. Luca has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Signant Health. Dr. Luca has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Abbott.

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