home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 91      Small font sizeDefault font sizeIncrease font size Print this page Email this page
Year : 2018  |  Volume : 13  |  Issue : 2  |  Page : 205-207

Late-onset Leigh syndrome due to NDUFV1 mutation in a 10-year-old boy initially presenting with ataxia

1 Division of Child Neurology, Department of Pediatrics, Cukurova University, Adana, Turkey
2 Department of Medical Genetics, Cukurova University, Adana, Turkey
3 Division of Pediatric Metabolism, Faculty of Medicine, Cukurova University, Adana, Turkey

Correspondence Address:
Faruk Incecik
Toros Mah., Barış Manço Bul. 78178 Sok., Yeşilpark Evleri, A Blok, Kat:7/13, Çukurova, Adana
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/JPN.JPN_138_17

Rights and Permissions

Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional mitochondrial energy metabolism. The onset of clinical features is typically between 3 and 12 months of age; however, a later onset has been described in a few patients. Complex I deficiency is reported to be the most common cause of mitochondrial disorders. We described a patient with a late-onset LS, who presented with gait ataxia, caused by complex I deficiency (NDUFV1 gene).


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
    PDF Downloaded58    
    Comments [Add]    
    Cited by others 5    

Recommend this journal