Genetic screening for Huntington's disease in Chinese patients with involuntary movements.
Clin Neurol Neurosurg
; 99(4): 244-7, 1997 Dec.
Article
em En
| MEDLINE
| ID: mdl-9491297
ABSTRACT
The diagnosis of Huntington's disease (HD) can be confirmed by detecting the expanded CAG repeat in the IT15 gene. Besides chorea, patients with HD may present with a variety of bizarre involuntary movements, resulting in confusion in making the diagnosis. Under such conditions, genetic analysis is the final confirmatory test. To determine if any patient with involuntary movements of undetermined etiology might be related to HD, we did genetic analysis on 22 patients and identified three with expanded CAG repeat. We could not obtain family history of HD in these patients due to adoption, early death of parents, or a vague history. All three patients were among the group with generalized chorea, but one had additional marked dystonic posturing. Together with four clinically recognizable HD patients, the relative frequency of HD among the 103 patients with choreiform movements in this hospital is 6.8%.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Coreia
/
Doença de Huntington
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Adult
/
Aged
/
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Ano de publicação:
1997
Tipo de documento:
Article