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

Q3 Neuroscience

eNeurologicalSci Pub Date : 2025-01-26 DOI:10.1016/j.ensci.2025.100558

Jao Jarro B. Garcia , Gilbert J. Cabataña Jr , Iris Ditan , Karl Josef Niño J. Separa , Ida Ingrid Rocha-Tulagan , Han-I Lin , Chin-Hsien Lin , Melanie Leigh D. Supnet-Wells , Alejandro F. Diaz , Arlene R. Ng , Roland Dominic G. Jamora , Gerard Saranza

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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.

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来源期刊

eNeurologicalSci Neuroscience-Neurology

CiteScore

3.50

自引率

0.00%

发文量

审稿时长

62 days

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