Annals of Indian Academy of Neurology
  Users Online: 1097 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size
CASE REPORT
Year : 2013  |  Volume : 16  |  Issue : 4  |  Page : 708-711

Spinocerebellar ataxia type 7: Report of an Indian family


Director and Chief Neurologist, Neurospecialities Centre, Belgaum, Karnataka, India

Correspondence Address:
Gurusidheshwar M Wali
Neurospecialities Centre, 3933, Club Road, Belgaum - 590 001, Karnataka
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.120455

Rights and Permissions

Spinocerebellar ataxia type 7 (SCA7) is a form of autosomal dominant cerebellar ataxia which is associated with pigmentary retinal degeneration. It is known for its world-wide rarity except in the Scandinavian countries. It is very rarely reported from India and the neighbouring Asian countries . The present report describes the neurogenetic findings of a family of SCA7, from the northern part of Karnataka in South India. It documents the wide intrafamilial phenotypic variability, which could be correlated with the CAG repeat counts and phenomenon of anticipation. Genotype phenotype correlation highlighted certain disparities in comparison with the previous studies. The report highlights the need for multiethnic population studies and the role of genetic counseling and prenatal testing in SCA7 patients.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 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
    Viewed1609    
    Printed34    
    Emailed0    
    PDF Downloaded71    
    Comments [Add]    
    Cited by others 1    

Recommend this journal