Recognizing familial Huntington's disease in an Asian cohort: Insights from the Philippines
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 case...
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Elsevier
2025-03-01
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| Series: | eNeurologicalSci |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405650225000127 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Jao Jarro B. Garcia |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a7c31d9f7d7b4beb8b3363d34190d5d0 |
| institution | Kabale University |
| issn | 2405-6502 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | eNeurologicalSci |
| spelling | doaj-art-a7c31d9f7d7b4beb8b3363d34190d5d02025-08-20T03:45:06ZengElseviereNeurologicalSci2405-65022025-03-013810055810.1016/j.ensci.2025.100558Recognizing familial Huntington's disease in an Asian cohort: Insights from the PhilippinesJao Jarro B. Garcia0Gilbert J. Cabataña, Jr1Iris Ditan2Karl Josef Niño J. Separa3Ida Ingrid Rocha-Tulagan4Han-I Lin5Chin-Hsien Lin6Melanie Leigh D. Supnet-Wells7Alejandro F. Diaz8Arlene R. Ng9Roland Dominic G. Jamora10Gerard Saranza11Division of Adult Neurology, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila, PhilippinesSection of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente Osmeña, Cebu City, PhilippinesDivision of Adult Neurology, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila, PhilippinesDivision of Adult Neurology, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila, PhilippinesDepartment of Internal Medicine, Region 1 Medical Center, Dagupan, Pangasinan, PhilippinesDepartment of Neurology, National Taiwan University Hospital, Taipei, TaiwanDepartment of Neurology, National Taiwan University Hospital, Taipei, TaiwanDepartment of Neuroscience and Behavioral Medicine, University of Santo Tomas Hospital, Manila, PhilippinesDepartment of Neuroscience and Behavioral Medicine, University of Santo Tomas Hospital, Manila, PhilippinesInstitute for Neurosciences, St. Luke's Medical Center, E. Rodriguez Sr. Avenue, Quezon City, PhilippinesDivision of Adult Neurology, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila, Philippines; Institute for Neurosciences, St. Luke's Medical Center, E. Rodriguez Sr. Avenue, Quezon City, Philippines; Section of Neurology, Department of Internal Medicine, Cardinal Santos Medical Center, San Juan City, PhilippinesDivision of Adult Neurology, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila, Philippines; Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente Osmeña, Cebu City, Philippines; Movement Disorders Service, Chong Hua Hospital and Vicente Sotto Memorial Medical Center, Cebu, Philippines; Departments of Anatomy and Internal Medicine, Cebu Institute of Medicine, Cebu, Philippines; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S2405650225000127HuntingtonHuntington's diseaseChoreaFilipinoPhilippines |
| spellingShingle | 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 Recognizing familial Huntington's disease in an Asian cohort: Insights from the Philippines eNeurologicalSci Huntington Huntington's disease Chorea Filipino Philippines |
| title | Recognizing familial Huntington's disease in an Asian cohort: Insights from the Philippines |
| title_full | Recognizing familial Huntington's disease in an Asian cohort: Insights from the Philippines |
| title_fullStr | Recognizing familial Huntington's disease in an Asian cohort: Insights from the Philippines |
| title_full_unstemmed | Recognizing familial Huntington's disease in an Asian cohort: Insights from the Philippines |
| title_short | Recognizing familial Huntington's disease in an Asian cohort: Insights from the Philippines |
| title_sort | recognizing familial huntington s disease in an asian cohort insights from the philippines |
| topic | Huntington Huntington's disease Chorea Filipino Philippines |
| url | http://www.sciencedirect.com/science/article/pii/S2405650225000127 |
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