Atormac
Neurology India
menu-bar5 Open access journal indexed with Index Medicus
  Users online: 2877  
 Home | Login 
About Editorial board Articlesmenu-bullet NSI Publicationsmenu-bullet Search Instructions Online Submission Subscribe Videos Etcetera Contact
  Navigate Here 
 »   Next article
 »   Previous article
 »   Table of Contents

 Resource Links
 »   Similar in PUBMED
 »  Search Pubmed for
 »  Search in Google Scholar for
 »Related articles
 »   Citation Manager
 »   Access Statistics
 »   Reader Comments
 »   Email Alert *
 »   Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed5048    
    Printed157    
    Emailed0    
    PDF Downloaded67    
    Comments [Add]    
    Cited by others 2    

Recommend this journal

 

 BRIEF REPORT
Year : 2010  |  Volume : 58  |  Issue : 4  |  Page : 622--626

Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7


Department of Neurology, Changhai Hospital, Second Military Medical University, 168 Changhai Road, Shanghai, 200433, China

Correspondence Address:
Yangtai Guan
Department of Neurology, Changhai Hospital, Second Military Medical University, 168 Changhai Road, Shanghai - 200433
China
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.68674

Rights and Permissions

Spinocerebellar ataxia 7 (SCA7) is a rare disease, and only few SCA7 families have been reported, especially from East Asia. Clinical features of a genetically confirmed SCA7 Chinese family were evaluated. The onset of the disease varied from 4 years to 48 years, and the initial presenting feature was cerebellar ataxia or visual impairment, or both. There were abnormal findings on fundus photography, electroretinogram, flash visual evoked potential and oscillatory potentials. Abnormal mitochondria were also found in skeletal muscle or liver biopsies. The number of cytosine adenine guanine (CAG) repeats ranged from 50 to 97, and the length of CAG repeat was inversely correlated with the age of onset (r=-0.867, P=0.025). Conclusion: The clinical manifestations and SCA7 gene of SCA7 patients were homogeneous in this study. Larger CAG repeats had not only resulted in earlier onset, but also related to the rapid progression and severity of the disease. Abnormal mitochondria may be a common finding in biopsy studies of various organs in SCA7 patients.






[FULL TEXT] [PDF]*


        
Print this article     Email this article

Online since 20th March '04
Published by Wolters Kluwer - Medknow