Open AccessLate-onset Leigh syndrome due to NDUFV1 mutation in a 10-year-old boy initially presenting with ataxia
Author(s) -
Faruk Incecık,
Özlem Hergüner,
Şeyda Beşen,
Sevcan Tuğ Bozdoğan,
Neslihan Önenli Mungan
Publication year - 2018
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_138_17
Subject(s) - leigh disease , medicine , ataxia , mitochondrial disease , mitochondrial dna , age of onset , mutation , disease , pediatrics , genetics , gene , psychiatry , biology
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).