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, respectively.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, neuropsychiatric-and young-onset were independent risk factors.Conclusions: Delayed diagnosis showed relation to neuropsychiatric-and early-onset in HD.

Abstract licence: CC BY-NC-ND

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