Characteristics of Huntington's disease (HD) differ among various ethnicities. Few studies have explored the relationship between phenotypes and genotypes of HD in Asians. We evaluated the relationship between integrated clinical and imaging phenotypes and genotypes in a Taiwanese HD cohort, enrolling 123 HD patients genetically diagnosed between August 1994 and February 2019. The clinical presentations and brain magnetic resonance imaging characteristics were analyzed from 67 patients and examined the correlation with genetic findings. Chorea was the most common initial manifestation (66.1%), especially in patients with late-onset disease (onset age > 60 years old), followed by psychiatric symptoms (25%) and cognitive impairment (14.3%). Compared to patients with adult-onset HD, the prevalence of parkinsonism was significantly higher in juvenile-onset HD patients (onset age < 20 years old, p = .007). Disease burden, which was measured by CAG repeats and age, was significantly associated with atrophy in caudate nucleus (p = .004), followed by putamen (p = .029), nucleus accumbens (p = .002), thalamus (p = .003), and total cortical volume (p = .001) after correcting for total intracranial volume. Our findings, that provided the first series of Taiwanese HD patients, delineated the clinical, radiological, and genetic characteristics in Asian HD patients.
Keywords: Huntington's disease; brain imaging; phenotype.
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