Genetics and clinical study of Chinese kindreds with dentatorubral pallidoluysian atrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 31-35, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-232211
ABSTRACT
<p><b>OBJECTIVE</b>To investigate genetics and clinical characteristics of dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese kindreds.</p><p><b>METHODS</b>Fragment analysis with laser-induced fluorescence in capillary electrophoresis was performed for the cytosine-adenine-guanine (CAG) repeats of DRPLA gene in 708 probands of autosomal dominant ataxia pedigrees and 119 sporadic ataxia cases.</p><p><b>RESULTS</b>Expanded CAG repeats of DRPLA gene were detected in probands of three ataxia pedigrees, with the numbers of repeats being 16/58, 16/58 and 14/54, respectively. In addition to ataxia, patients with adult-onset disease also exhibited spasm and neck torsion.</p><p><b>CONCLUSION</b>Only three cases of DRPLA have been identified among 827 cases, which suggested that DRPLA is a relatively rare subtype of SCA in Chinese population. Clinical variation among the patients suggested DRPLA has a wide spectrum of phenotype.</p>
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Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Linhagem
/
Fenótipo
/
Encéfalo
/
Imageamento por Ressonância Magnética
/
China
/
Repetições de Trinucleotídeos
/
Epilepsias Mioclônicas Progressivas
/
Povo Asiático
/
Diagnóstico
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adolescente
/
Adulto
/
Idoso
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Artigo
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