A genetically-proven case of Huntington’s disease in the Philippines

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Melanie Leigh D. Supnet

University of Santo Tomas Hospital, Philippines

: J Spine Neurosurg

Abstract

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Introduction: Huntington’s disease (HD) is a rare, neurodegenerative disorder characterized by chorea,behavioral manifestations, and dementia.Its cause has been linked to abnormal expansion in a length of a CAG triplet repeat sequence in a gene on chromosome 4p, now called the Huntington gene (HD). The disease occurs in all racial groups but is most common in people of northern European origin.Studies revealed an incidence of 0.38 per 100,000 per year with a lower incidence in the Asian studies. The worldwide service-based prevalence of HD was 2.71 per 100,000 and overall prevalence conducted in Asia showed 0.40 per 100,000. A literature review revealed no previous reports of genetically-proven case of Huntington’s disease in the Philippines. Case description: A 30-year old Filipino male from Jolo, Sulu consulted to the hospital with the complaint of involuntary, brief, irregular, jerky movements of extremities. History started when the patient was 21 years old. There was gradual progression of symptoms which initially started as jerky, repetitive, purposeless movements of the head and shouldersuntil there was involvement of trunk and all extremities. He developed behavioral changes in the form of frequent outbursts of anger, loss of temper and irritability, and manifested with cognitive problems that he had to stop schooling. His father had the same manifestations when he was still alive. He has 2 paternal uncles and an aunt who also presented to the hospital with the same symptoms. On physical examination, he has random facial grimaces with intermittent protrusion of the tongue and irregular shoulder jerks with athethoid movement of the distal extremities. He has generalized random movement of the different parts of the body including truncal musculatures and has involuntary, brief, irregular, jerky movements that flow from proximal to distal extremities. The patient has parakinesias and motor impersistence. Cranial CT scan was done which showed atrophy of bilateral caudate nucleus. Genetic testing was done to our patient. Blood specimen was sent to Mayo Clinic and PCR based assay was utilized to detect CAG repeat expansions in exon 1 of the HTT gene. The CAG repeat of the patient was 53 revealing full penetrance. Discussion: HD is rare among Asians and this is the first genetically-proven case in the Philippines. Since relatively uncommon, Huntington’s disease can be devastating for patients and their families. This case illustrates the potential benefit of utilizing genetic testing and counseling to the other family members, and conducting further study on the ancestral place of the patient.

Biography

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