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Updated: Aug 23, 2026
Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
Clinical features of hereditary spinocerebellar ataxia diagnosed by molecular genetic analysis
1Department of Medicine and Geriatrics, Princess Margaret Hospital, 2-10 Princess Margaret Hospital Road, Laichikok, Hong Kong. dominickklau@hotmail.com
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 Outcome Measures:
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.
