Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia


İNCECİK F. , HERGUNER O. M. , BESEN S., BOZDOGAN S. T. , MUNGAN N. O.

JOURNAL OF PEDIATRIC NEUROSCIENCES, cilt.13, ss.205-207, 2018 (ESCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 13 Konu: 2
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4103/jpn.jpn_138_17
  • Dergi Adı: JOURNAL OF PEDIATRIC NEUROSCIENCES
  • Sayfa Sayısı: ss.205-207

Özet

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).