Objective: To define neuropsychological profile of HD patients adopting Parkinson’s disease Level II criteria for cognitive diagnosis[1].

Background: HD is a rare autosomal dominant genetic disorder, caused by the expansion of the cytosine-adenine-guanine(CAG) repeat in the huntingtin(HTT) gene. Cognitive alterations in executive functions and processing speed have been well documented [2,3] but there no standardized cognitive protocol to identify different cognitive statuses (normal cognition(NC), mild cognitive impairment(MCI) and dementia(DEM)). Hence, a comprehensive Level II neuropsychological assessment is needed. Additionally, DSM V criteria for diagnosis of neurocognitive disorders suggest assessment of social cognition as the sixth domain [4].

Method: Thirty-two HD patients (4 asymptomatic, 8 early symptomatic, 20 symptomatic) were recruited at the Movement Disorders Unit of Padua University and underwent motor, behavioral, and complete neuropsychological evaluation allowing second level cognitive diagnosis. Based on cognitive profile patients were categorized as follows: NC(19%), MCI(56%) and DEM(25%).

Results: Age, disease duration and UHDRS distinguished cognitive subgroups (p<0.05). Concerning global scales, MoCA showed significant differences between all groups while MMSE differed only between MCI and DEM(p<0.05). As behavioural variable, insight (CIRS) differed between subgroups(p<0.05). Clinically relevant cognitive differences(p<0.05) between NC and MCI were found in the attentive and set-shifting(TMT, SDMT), executive(Phonemic fluency, Stroop test), memory(HVLT), language(BNT, Category fluency) and social cognition(RMET) domains. Significant differences between MCI and DEM(p<0.05) were found in the attentive and set-shifting(TMT, SDMT), executive(Phonemic fluency), memory(HVLT), language(BNT, Category fluency) and visuo-spatial(MMSE pentagon copy) domains.

Conclusion: Global scales showed different sensitivity across cognitive stages similar to other basal ganglia pathologies [5].Presence of MCI was characterized by memory, language and social cognition alterations in addition to executive/attentional dysfunctions. HD with dementia presented executive/attentional, memory, language and visuo-spatial deficits. Future studies in larger cohorts should better define characteristics and time of clinical onset of cognitive alterations in HD.

References: [1] Litvan, I., Goldman, J. G., Tröster, A. I., Schmand, B. A., Weintraub, D., Petersen, R. C., … & Emre, M. (2012). Diagnostic criteria for mild cognitive impairment in Parkinson’s disease: Movement Disorder Society Task Force guidelines. Movement disorders, 27(3), 349-356.
[2] Martinez-Horta, S., Horta-Barba, A., Perez-Perez, J., Sampedro, F., de Lucia, N., De Michele, G., … & Kulisevsky, J. (2020). Utility of the Parkinson’s disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington’s disease. Journal of neurology, 1-9.
[3] Paulsen, J. S., & Long, J. D. (2014). Onset of Huntington’s disease: can it be purely cognitive?. Movement Disorders, 29(11), 1342-1350.
[4] Sachdev, P. S., Blacker, D., Blazer, D. G., Ganguli, M., Jeste, D. V., Paulsen, J. S., & Petersen, R. C. (2014). Classifying neurocognitive disorders: the DSM-5 approach. Nature Reviews Neurology, 10(11), 634-642.
[5] Biundo R, Weis L, Pilleri M, Facchini S, Formento-Dojot P, Vallelunga A, Antonini A Diagnostic and screening power of neuropsychological testing in detecting mild cognitive impairment in Parkinson’s disease. J Neural Transm (Vienna). 2013 Apr;120(4):627-33

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cognitive-profiling-in-a-cohort-of-huntingtons-disease-hd-patients/