Clinical features of hereditary spinocerebellar ataxia diagnosed by molecular genetic analysis.
Hong Kong Med J
; 10(4): 255-9, 2004 Aug.
Article
en En
| MEDLINE
| ID: mdl-15299171
ABSTRACT
OBJECTIVE:
To assess the frequency and clinical features of different types of hereditary spinocerebellar ataxia in Hong Kong.DESIGN:
Cross-sectional study using a questionnaire and clinical examination, with the majority of the information retrospectively collected.SETTING:
Three regional hospitals, Hong Kong.PARTICIPANTS:
All patients with spinocerebellar ataxia that was confirmed by molecular genetic tests between January 2001 and October 2003. MAIN OUTCOMEMEASURES:
History, latest physical examination results, clinical investigation results, and genetic profiles.RESULTS:
A total of 16 Chinese patients had received diagnoses of spinocerebellar ataxia. These patients had spinocerebellar ataxia type 1 (n=3), spinocerebellar ataxia type 3 (Machado-Joseph disease; n=12), and dentatorubro-pallidoluysian atrophy (n=1). The most common manifestation was ataxia (15/16), followed by pyramidal signs (12/16). Other features such as bulbar dysfunction, ophthalmoplegia, neuropathy, and cognitive impairment were present but variable.CONCLUSIONS:
The clinical manifestations of different types of spinocerebellar ataxia overlap, and genetic study is necessary to confirm the diagnosis. The frequency of spinocerebellar ataxia type 3 is greater than that of other types among these Chinese patients. The age of onset of this type may correlate inversely with the number of CAG repeats.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Machado-Joseph
/
Ataxias Espinocerebelosas
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prevalence_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
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Male
/
Middle aged
País/Región como asunto:
Asia
Idioma:
En
Revista:
Hong Kong Med J
Asunto de la revista:
MEDICINA
Año:
2004
Tipo del documento:
Article
País de afiliación:
Hong Kong