Objective: To describe the cerebellar symptoms and other accompanying movement disorders in Huntington’s Disease (HD).

Background: HD is a pathological entity whose etiological substrate is due to an expansion of the CAG triplet, located on the short arm of chromosome 4, which produces a mutation in the Huntingtin gene (HTTm) [1-2]. HD affects other brain areas in addition to the striatum, and it is considered a neurodegenerative disease that involves the neocortex, allocortex, thalamus, pallidus, brainstem, and cerebellum [3]. Currently, there are few descriptive studies that show other motor manifestations apart from those already known.

Method: We analyzed 35 patients diagnosed with HD at the Instituto Nacional de Neurología y Neurocirugía in Mexico City diagnosed with HD, during the period from December 2015 to February 2020. The main scale for HD (UHDRS), for ataxia (SARA), for dystonia (BFMDRS), and for parkinsonian symptoms (UPDRS), were performed in each patient. Correlation between demographic features and scales were realized.

Results: Of the 35 patients, 19 (54%) were men. The mean age at onset was 41±14y, and the mean age at medical evaluation was 51±13y. The most frequent initial symptom was chorea, followed by depression. The number of CAG repeats negatively correlated with the age of symptoms onset (r=-0.774; p=<0.001). Correlations between the UHDRS with the rest of the scales (Table 1) were: with SARA (r=0.813; p=<0.001), with BFMDRS (r=0.553; p=<0.001), and with UPDRS (r=0.750; p=<0.001). We also analyzed the chorea subscore of UHDRS correlations with SARA (r=0.721; p=<0.001), with BFMDRS (r=0.503; p=0.002), and with UPDRS (r=0.549; p= 0.001).

Conclusion: Beside chorea, HD included other motor symptoms as ataxia, parkinsonism, and dystonia. Cerebellar symptoms have been scarcely studied in HD cohorts. We present a multiple clinical scale study that evaluated the severity of the symptoms with their correlations. We found that the severity of HD, as measured by the UHDRS scale, correlates with the severity of cerebellar symptoms and other motor symptoms. The effect of non-choreic motor symptoms and their clinical significance in daily practice should be recognized in order to apply personalized therapies to improve quality of life.

References: 1. McColgan P, Tabrizi SJ. Huntington’s disease: a clinical review. Eur J Neurol. 2018;25(1):24-34. doi:10.1111/ene.13413
2. Ross CA, Tabrizi SJ. Huntington’s disease: From molecular pathogenesis to clinical treatment. Lancet Neurol. 2011;10(1):83-98. doi:10.1016/S1474-4422(10)70245-3
3. Rüb U, Seidel K, Heinsen H, Vonsattel JP, den Dunnen WF, Korf HW. Huntington’s disease (HD): the neuropathology of a multisystem neurodegenerative disorder of the human brain. Brain Pathol. 2016;26(6):726-740. doi:10.1111/bpa.12426

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cerebellar-and-other-motor-symptoms-in-huntingtons-disease-a-multiple-scale-correlation-study/