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.

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