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.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cognitive-outcome-in-pantothenate-kinase-associated-neurodegeneration-pkan-treated-with-deep-brain-stimulation-dbscase-report/