Objective: To assess cognitive outcome in PKAN treated with DBS
Background: PKAN is a rare neurodegenerative disorder with pediatric onset & dystonic features. Motor symptoms generally are poorly controlled by pharmacotherapy, & DBS can be considered to reduce symptom burden & improve QoL. Cognitively, people with PKAN can have normal to globally impaired functions at baseline, however, no data exist on post-DBS cognitive outcome in PKAN.
Method: We report an 18 year old, RH, 5th grade educated, monolingual Spanish speaking girl with genetically confirmed PKAN (homozygous pathogenic variant identified in PANK2). Gestational, birth, & developmental histories are unremarkable. She was doing well until 11yo when she exhibited acute decline in writing & eating, followed by profound retrocollis, falls, & dystonia that caused orthopedic injuries by 14. By 17, she was wheelchair dependent. She presented to Mount Sinai Hospital for DBS surgery.
Results: All exams & procedures were completed in Spanish. DBS surgery involved staged placement of bilateral GPi leads using image and microelectrode guidance without complication.
Motor: Postoperatively, the patient is eating independently with utensils, drawing on her own, & walking with a walker otherwise with 1-1 support. There is no retrocollis & she is sitting up straight. Dysarthria also is reduced. These results are sustained for the 18 months that she has been followed post-DBS.
Cognitive: Pre-DBS, the patient communicated with guttural utterances & unintelligible speech. Severe motor & communication deficits prevented completion of many objective measures. Visual recognition memory and spatial abstraction were impaired. She correctly completed 2-step commands, while comprehension of complex ideational material was poor. No concerns about mood, anxiety, or personality changes were reported by the patient or her mother. On routine annual post-DBS exam, comprehension remained stable. Memory scores improved to the normal limits. Attention & processing speed also improved.
Conclusion: DBS is associated with stable or improved cognitive skills & absent cognitive loss in a young patient with PKAN.
References: De Vloo P, Lee DJ, Dallapiazza RF, Rohani M, Fasano A, Munhoz RP, Ibrahim GM, Hodaie M, Lozano AM, Kalia SK. Deep brain stimulation for pantothenate kinase-associated neurodegeneration: A meta-analysis. Mov Disord. 2019 Feb;34(2):264-273. doi: 10.1002/mds.27563. Epub 2019 Jan 11. PMID: 30633810.
Freeman K, Gregory A, Turner A, Blasco P, Hogarth P, Hayflick S. Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration. J Intellect Disabil Res. 2007 Jun;51(Pt. 6):417-26. doi: 10.1111/j.1365-2788.2006.00889.x. PMID: 17493025; PMCID: PMC2099459.
Liu Z, Liu Y, Yang Y, Wang L, Dou W, Guo J, Wang Y, Guo Y, Wan X, Ma W, Wang R. Subthalamic Nuclei Stimulation in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN). Neuromodulation. 2017 Jul;20(5):484-491. doi: 10.1111/ner.12549. Epub 2017 Jan 5. PMID: 28055131.
Svetel M, Tomić A, Dragašević N, Petrović I, Kresojević N, Jech R, Urgošik D, Banjac I, Vitković J, Novaković I, Kostić VS. Clinical course of patients with pantothenate kinase-associated neurodegeneration (PKAN) before and after DBS surgery. J Neurol. 2019 Dec;266(12):2962-2969. doi: 10.1007/s00415-019-09499-3. Epub 2019 Aug 29. PMID: 31463603.
To cite this abstract in AMA style:
C. Palmese, M. Pozo, B. Kopell. Cognitive Outcome in Pantothenate Kinase-Associated Neurodegeneration (PKAN) Treated with Deep Brain Stimulation (DBS):Case Report [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/cognitive-outcome-in-pantothenate-kinase-associated-neurodegeneration-pkan-treated-with-deep-brain-stimulation-dbscase-report/. Accessed October 6, 2024.« Back to 2024 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/cognitive-outcome-in-pantothenate-kinase-associated-neurodegeneration-pkan-treated-with-deep-brain-stimulation-dbscase-report/