Kennedy’s disease in two Korean families
DC Field | Value | Language |
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dc.contributor.author | 김희태 | - |
dc.date.accessioned | 2021-08-04T07:49:40Z | - |
dc.date.available | 2021-08-04T07:49:40Z | - |
dc.date.issued | 20021024 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/77471 | - |
dc.description.abstract | Background & Significance : Kennedy’s disease, also known as spinobulbar muscular atrophy (SBMA) is rare, X-linked, slowly progressive disorder resulting from degeneration of motor neuron of the brain stem and spinal cord and caused by CAG trinucleotide repeat expansion within the first exon of the androgen receptor (AR) gene. We report moleculargenetic characteristics of Kennedy’s disease in two Korean families Case : 27 members of one family and 13 members of the other received neurological examination and history taking as screening test. Diagnostic test by using PCR method were performed in 27 members in one family and 13 in the other, respectively. Normal alleles exhibit polymorphism with repeat length ranging from 9 to 36(<310bp), while patients with Kennedy’s disease have been identified with repeat size ranging from 40 to 62(325~391bp)). In this study, 3 members of one family and 2 members CAG repeat in one family were diagnosed as patients with Kennedy disease by PCR method. Moreover, 4 members of one family and 2 members in the other were diagnosed as career. Affected members in 2 Korean families didn’t show any abnormality in sensory nerve conduction studies, and other endocrinologic manifestation. They only manifested symptoms related to motor dysfunction Conclusions or Commentes : We report molecularbilogically confirmed X-linked SBMA in 2 Korean families without any abnormality in sensory nerve conduction studies and other endocrinologic manifestation. | - |
dc.title | Kennedy’s disease in two Korean families | - |
dc.type | Conference | - |
dc.citation.conferenceName | 대한신경과학회 추계학술대회 | - |
dc.citation.conferencePlace | 서울교육문화회관 | - |
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