Neuropsychiatric and young-onset as clinical determinants for a delayed Huntington's disease diagnosis

Objective: This study aims to identify the possible factors that delay the time-to-diagnosis of Huntington's disease (HD). Methods: A cross-sectional study in HD patients was carried out. Variables registered were CAG repeats, age of onset, primary symptom at onset, age of molecular diagnosis, and time-to-diagnosis, among others. Results: 107 patients (50.5% female) with a mean age of 49 +/- 12.8 years (y) were included in the study. Median CAG size was 45 (38-73). Mean age of onset, mean age of molecular diagnosis, and mean time-to-diagnosis were 39 +/- 12.9, 45.1 +/- 12.1, and 6.4 +/- 6.4 years, res-pectively. In the comparative analysis, the neuropsychiatric-and the young-onset groups had a longer time-to-diagnosis than the motor-and typical-onset groups (p = 0.02 and p < 0.01, respectively). In the linear regression analysis, neuropsychia- tric-and young-onset were independent risk factors. Conclusions: Delayed diagnosis showed relation to neuropsychia- tric-and early-onset in HD.

Automated summary

This study aimed to identify factors contributing to the delayed diagnosis of Huntington's disease (HD). A cross-sectional study was conducted on HD patients, collecting variables such as CAG repeats, age of onset, primary symptom, age of molecular diagnosis, and time-to-diagnosis. Results showed that out of 107 patients (50.5% female) with a mean age of 49 years, delayed diagnosis was associated with neuropsychiatric symptoms and early onset of the disease. Linear regression analysis confirmed neuropsychiatric symptoms and early onset as independent risk factors for delayed diagnosis.