F07 A frequency of concomitant disorders in presymptomatic huntington’s disease patients


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Abstract

There is growing evidence that Huntington’s disease (HD) is a multi-system disorder. Although HD is predominantly recognized as a neurodegenerative disease, there is a mounting evidence that peripheral component to its pathology may also contribute to the disease progression. A number of pre-clinical studies in recent years revealed that murine models of HD develop a wide range of peripheral tissue abnormalities including eyes, cardiac and skeletal muscles, even at the pre-symptomatic stage.Hence, the aim of this study was to unravel concomitant disorders in the pre-symptomatic HD subjects.Our study was performed based on two EHDN Study sites in Poznan and Warsaw (Poland) and we collected data about: a frequency of concomitant disorders, age and number of CAG repeats from the REGISTRY and ENROLL-HD programs. In total, we identified 97 presymptomatic individuals using UHDRS as a criterion out of 542 patients between those two EHDN centers.The mean of age for the presymptomatic patients was 32.5 (±SD 8.9) years while the mean of the number of CAG repeats was 42.6 (±SD 3.1). We found that nearly a third of the group (28.9%) did not report any concomitant disorders. However, there was a number of patients that already developed psychiatric diseases (26.8%), predominantly depression was present in 18 cases. Moreover, we found the following comorbid conditions: musculoskeletal disorders and injuries (19.6%), allergies (18.6%), cardiovascular disorders (14.4%), neurological disorders (13.4%), gastrointestinal disorders (9.3%) and thyroid abnormalities (8.2%). A comparative analysis showed that the same comorbidities were observed in the symptomatic and presymptomatic HD subjects, only with a lower frequency in the latter.Our current study revealed for the first time that the peripheral component of HD pathology is already present in the group of presymptomatic HD patients at a similar level to the previously reported study on the group of symptomatic HD patients. The presence of concomitant disorders in over 70% presymptomatic patients might suggest an intrinsic role of mutated HTT across different human organs. These findings need further investigation in clinical settings, however they are in line with a number of preclinical studies that have previously identified a peripheral component in presymptomatic HD mouse models.

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