Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia
JOURNAL OF PEDIATRIC NEUROSCIENCES, cilt.13, sa.2, ss.205-207, 2018 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 13 Sayı: 2
- Basım Tarihi: 2018
- Doi Numarası: 10.4103/jpn.jpn_138_17
- Dergi Adı: JOURNAL OF PEDIATRIC NEUROSCIENCES
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
- Sayfa Sayıları: ss.205-207
- Çukurova Üniversitesi Adresli: Evet
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).