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.
Artículo
en Chino
| 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>
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Linaje
/
Fenotipo
/
Encéfalo
/
Imagen por Resonancia Magnética
/
China
/
Repeticiones de Trinucleótidos
/
Epilepsias Mioclónicas Progresivas
/
Pueblo Asiatico
/
Diagnóstico
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Adolescente
/
Adulto
/
Anciano
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2013
Tipo del documento:
Artículo
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