Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations

To the Editor:Mutations in the mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) have been recently found to lead to chronic progressive leukodystrophy or infantile cardiomyopathy.Up to date,there have been 15 patients reported with chronic progressive leukodystrophy.Notably,all the female patient...

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Veröffentlicht in:Chinese medical journal 2017-12, Vol.130 (24), p.3021-3022
Hauptverfasser: Sun, Jian, Quan, Chao, Luo, Su-Shan, Zhou, Lei, Zhao, Chong-Bo
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Sprache:eng
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Zusammenfassung:To the Editor:Mutations in the mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) have been recently found to lead to chronic progressive leukodystrophy or infantile cardiomyopathy.Up to date,there have been 15 patients reported with chronic progressive leukodystrophy.Notably,all the female patients (9/15) present with ovarian failure,described as "ovarioleukodystrophy."[1-4] Herein,we report a female patient with progressive adult-onset leukodystrophy without ovarian failure due to compound heterozygous mutations in AARS2.
ISSN:0366-6999
2542-5641
DOI:10.4103/0366-6999.220300