Objective: The aim is to evaluate features of NMS in PwHD of Tomsk region.

Background: Patients with Huntington’s disease(PwHD) can complain of other non-motor symptoms(NMS) different from behavioral, cognitive abnormalities. However, their clinical assessment is often limited to individual symptoms rather addressing whole picture[Chaudhuri KR,2015; Tatiana Aldaz,2019].

Method: 833 patients with neurodegenerative disorders are registered in Tomsk region electronic database. For 2018-2019, we identified 13 PwHD in Tomsk(women:men=6:7, average age –50.9±10.3, motor manifestations debut average age –42.3±10.1, HD average duration –11.7±7.3, average stage –3.86±3.73, average UHDRS score –67.9±31.6). Clinical evaluations were carried out using UHDRS, Ira Shoulson scale, MoCA-test, BDI-II, HADS, apathy scale, Epworth sleepiness scale, Sleep attack scale, Impulse-compulsive disorder questionnaire, SF-36.

Results: Among the identified HD 9 cases are family(4 families), 4–sporadic. Estimated prevalence of HD in Tomsk region varies from 4 to 7 cases per 100,000. Number of CAG repeats in the HTT-gene among PwHD ranged from 41 to 45. According to Ira Shoulson’s classification(Georgetown University,USA), 4 patients had stage II, stage III–5, stage IV–3 and stage V–1.
All examined PwHD had classic motor symptoms as choreic movements(92.3%), dystonia(76.9%), myoclonus(53.8%), muscle rigidity(46.1%).
Among PwHD, most common NMS were identified: cognitive impairment(100.0%), sleep disturbance(92.3%), irritability(76.9%), anxiety(61.5%), depressive disorders(61.5%), apathy(53.8%), suicidal thoughts, actions(53.8%), dysphoria(38.5%), obsessive-compulsive disorders(30.8%).

Conclusion: This study shows the need to further supplement the register of PwHD in order to study their motor and NMS and their impact on the life quality of both patients themselves and their relatives.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/motor-and-non-motor-symptoms-in-huntingtons-disease-patients-in-the-tomsk-region-russia/