TY - JOUR
T1 - Juvenile leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene
T2 - A mitochondrial syndrome presenting from birth to adolescence
AU - Leshinsky-Silver, Esther
AU - Shuvalov, Ruslan
AU - Inbar, Shani
AU - Cohen, Sarit
AU - Lev, Dorit
AU - Lerman-Sagie, Tally
PY - 2011/4
Y1 - 2011/4
N2 - An increasing number of reports describe mutations in mitochondrial DNA coding regions, especially in mitochondrial DNA- encoded nicotinamide adenine dinucleotide dehydrogenase subunit genes of the respiratory chain complex I, as causing early-onset Leigh syndrome. The authors report the molecular findings in a 24-year-old patient with juvenile-onset Leigh syndrome presenting with optic atrophy, ataxia dystonia, and epilepsy. A brain magnetic resonance imaging revealed bilateral basal ganglia and thalamic hypointensities, and a magnetic resonance spectroscopy revealed an increased lactate peak. The authors identified a T14487C change causing M63V substitution in the mitochondrial ND6 gene. The mutation was heteroplasmic in muscle and blood samples, with different mutation loads, and was absent in the patient's mother's urine and blood samples. They suggest that the T14487C mtDNA mutation should be analyzed in Leigh syndrome, presenting with optic atrophy, ataxia, dystonia, and epilepsy, regardless of age.
AB - An increasing number of reports describe mutations in mitochondrial DNA coding regions, especially in mitochondrial DNA- encoded nicotinamide adenine dinucleotide dehydrogenase subunit genes of the respiratory chain complex I, as causing early-onset Leigh syndrome. The authors report the molecular findings in a 24-year-old patient with juvenile-onset Leigh syndrome presenting with optic atrophy, ataxia dystonia, and epilepsy. A brain magnetic resonance imaging revealed bilateral basal ganglia and thalamic hypointensities, and a magnetic resonance spectroscopy revealed an increased lactate peak. The authors identified a T14487C change causing M63V substitution in the mitochondrial ND6 gene. The mutation was heteroplasmic in muscle and blood samples, with different mutation loads, and was absent in the patient's mother's urine and blood samples. They suggest that the T14487C mtDNA mutation should be analyzed in Leigh syndrome, presenting with optic atrophy, ataxia, dystonia, and epilepsy, regardless of age.
KW - Leigh syndrome
KW - ND6
KW - ataxia
KW - dystonia
KW - optic atrophy
UR - http://www.scopus.com/inward/record.url?scp=79954622177&partnerID=8YFLogxK
U2 - 10.1177/0883073810384615
DO - 10.1177/0883073810384615
M3 - Article
C2 - 21196529
AN - SCOPUS:79954622177
SN - 0883-0738
VL - 26
SP - 476
EP - 481
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 4
ER -