Sporadic Huntington's disease in the Philippines: a case report

Abstract

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder with core clinical features of choreoathetosis, cognitive deficits and behavioral changes. It is a rare disorder, primarily affecting the Caucasian population, and rarely Asians. To date, there are only two reported, genetically proven familial HD cases in the Philippines. We present the case of a 39-year-old Filipino male with a 10-year history of progressive behavior and personality changes followed by cognitive decline and choreoathetotic movements. Neuroimaging showed atrophy of both caudate and putamen with putaminal rim sign. Genetic testing revealed a 47 CAG trinucleotide repeats in the Huntingtin gene; family history is negative. This is the first, genetically proven, sporadic and the third HD case in the Philippines. Despite its rarity, this report highlights the importance of including HD as a possible cause of adult-onset chorea among Filipinos.

Keywords: CAG repeat; Huntington’s disease; chorea; movement disorder; neurodegenerative disorder; rare diseases; trinucleotide repeat.