Recognizing familial Huntington's disease in an Asian cohort: Insights from the Philippines

Abstract

Huntington's Disease (HD) is an autosomal-dominant, neurodegenerative condition characterized by extrapyramidal, psychiatric, and cognitive disturbances. In the Philippines, only one genetically confirmed sporadic case had been previously reported. This study aims to present ten additional cases of genetically proven familial HD. All cases were of pure Filipino descent, aged 27-65. Six were males, and nine had at least one relative who manifested with the same symptomatology. The youngest age at onset was 21 years old. Nine initially manifested with chorea, whereas one manifested initially with behavioral change. At the time of consult, eight already had cognitive changes exemplified by memory lapses, while six also manifested behavioral or psychiatric disturbances. Workup revealed caudate atrophy in six and cerebral atrophy in five of the cases. All tested positive on genetic testing with the CAG trinucleotide spanning 41 to 53 repeats. The clinical profile of our patients did not differ from the known and published natural course of HD. To date, HD remains underrecognized in the Philippines. Although rare in Asian countries, it should still be a differential for a patient with chorea, cognitive decline, behavioral changes, and a strong family history of the same symptomatology.

Keywords: Chorea; Filipino; Huntington; Huntington's disease; Philippines.

Fig. 1

[A]. Place of origin of the eight individuals with genetically proven familial Huntington's disease. Information regarding the place of origin was not available for two of our patients. [B]. Current challenges, planned interventions and expected outcomes in the diagnosis and management of HD in the Philippines.

Fig. 2

Four generation genograms of the first five cases of genetically proven Huntington's Disease included in this series. [A] Genogram of the Case 1. [B] Genogram of the Case 2. [C] Genogram of Case 3. [D] Genogram of Case 4. [E] Genogram of Case 5.

Fig. 3

Plain cranial MRI of the first five cases of genetically proven Huntington's Disease included in this series. Shown are representative cuts at the level of the basal ganglia in T2 sequence. [A,B] Neuroimaging of Case 1. [C,D] Neuroimaging of Case 2. [E,F] Neuroimaging of Case 3. [G,H] Neuroimaging of Case 4. [I,J] Neuroimaging of Case 5. The red arrowheads mark the widening of the Sylvian fissures suggestive of cerebral atrophy whereas the red arrows point to the atrophy of the caudate head. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)