Dentatorubro-pallidoluysian Atrophy: The Clinical and Molecular Genetic Study of Three Korean Families
Journal of the Korean Neurological Association
;
: 465-468, 2000.
Artigo
em Coreano
| WPRIM
| ID: wpr-146851
ABSTRACT
Dentatorubro-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder with various clinical phenotypes and has a cytosine-adenine-guanine (CAG) trinucleotide repeat in a gene on chromosome 12. It has been known that trinucleotide repeat disorders show strong inverse correlations between the CAG repeat number and the age of onset and genetic anticipation. The purpose of this study was to investigate whether these observations are applicable to Korean patients. This report involved three Korean families and had on file the history of the 15 affected family mem-bers .Seven of the affected members had the diagnosis of DRPLA which was confirmed by a gene study. We observed inverse correlations between the CAG repeat number and the age of onset and genetic anticipation with high intra- and interfamilial variations. Although our study was in general agreement with previously documented features of DRPLA, some features could not be explained by currently understood pathophysiologic mechanisms.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Atrofia
/
Cromossomos Humanos Par 12
/
Genes vif
/
Idade de Início
/
Repetições de Trinucleotídeos
/
Doenças Neurodegenerativas
/
Antecipação Genética
/
Diagnóstico
/
Biologia Molecular
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2000
Tipo de documento:
Artigo
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