Document Detail

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.
MedLine Citation:
PMID:  22666787     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias.
METHODS: We studied 150 patients from 104 families with spinocerebellar ataxias who had received molecular genetic testing for spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, 10, 12, 17, and dentatorubral-pallidoluysian atrophy. A statistical analysis of the results was performed using basic descriptive statistics and the correlation coefficient (r), Student's t-test, chi-square test, and Yates' correction. The statistical significance level was established for p-values <0.05.
RESULTS: The results show that the most common subtype was spinocerebellar ataxia 3, which was followed by spinocerebellar ataxia 10. Moreover, the comparison between patients with spinocerebellar ataxia 3, spinocerebellar ataxia 10, and other types of spinocerebellar ataxia revealed distinct clinical features for each type. In patients with spinocerebellar ataxia 3, the phenotype was highly pleomorphic, although the most common signs of disease included cerebellar ataxia (CA), ophthalmoplegia, diplopia, eyelid retraction, facial fasciculation, pyramidal signs, and peripheral neuropathy. In patients with spinocerebellar ataxia 10, the phenotype was also rather distinct and consisted of pure cerebellar ataxia and abnormal saccadic eye movement as well as ocular dysmetria. Patients with spinocerebellar ataxias 2 and 7 presented highly suggestive features of cerebellar ataxia, including slow saccadic ocular movements and areflexia in spinocerebellar ataxia 2 and visual loss in spinocerebellar ataxia 7.
CONCLUSIONS: Spinocerebellar ataxia 3 was the most common subtype examined, followed by spinocerebellar ataxia 10. Patients with spinocerebellar ataxia 2 and 7 demonstrated highly suggestive features, whereas the phenotype of spinocerebellar ataxia 3 patients was highly pleomorphic and spinocerebellar ataxia 10 patients exhibited pure cerebellar ataxia. Epilepsy was absent in all of the patients with spinocerebellar ataxia 10 in this series.
Hélio A G Teive; Renato P Munhoz; Walter O Arruda; Iscia Lopes-Cendes; Salmo Raskin; Lineu C Werneck; Tetsuo Ashizawa
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  Clinics (São Paulo, Brazil)     Volume:  67     ISSN:  1980-5322     ISO Abbreviation:  Clinics (Sao Paulo)     Publication Date:  2012  
Date Detail:
Created Date:  2012-06-05     Completed Date:  2013-02-25     Revised Date:  2013-07-12    
Medline Journal Info:
Nlm Unique ID:  101244734     Medline TA:  Clinics (Sao Paulo)     Country:  Brazil    
Other Details:
Languages:  eng     Pagination:  443-9     Citation Subset:  IM    
Hospital de Clínicas, Federal University of Paraná, Internal Medicine Department, Neurology Service, Movement Disorders Unit, Curitiba/PR, Brazil.
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MeSH Terms
Age of Onset
DNA Repeat Expansion / genetics
Genetic Association Studies*
Machado-Joseph Disease / diagnosis*,  genetics
Molecular Diagnostic Techniques
Spinocerebellar Ataxias / diagnosis*,  genetics
Grant Support

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