Broad spectrum of clinical presentation in EARS2 beyond typical “leukoencephalopathy with thalamus and brain stem involvement”

Broad spectrum of clinical presentation in EARS2 beyond typical “leukoencephalopathy with thalamus and brain stem involvement”

Highlights•EARS2 encodes mitochondrial glutamyl t-RNA synthetase. •Homozygous or compound heterozygous pathogenic variants in EARS2 lead LTBL. •The clinical presentation of LTBL can be severe or mild, but with characteristic neuroradiological findings. •We report a patient with compound heterozygous...

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Veröffentlicht in:Journal of the neurological sciences 2019-11, Vol.406, p.116448-116448, Article 116448
Hauptverfasser: Prasun, Pankaj, Mintz, Cassie, Cork, Emalyn, Naidich, Thomas P, Webb, Bryn D
Format: Artikel
Sprache:eng
Schlagworte:
Brain stem
EARS2
Leukodystrophy
Leukoencephalopathy
Mitochondria
Neurology
Thalamus
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Zusammenfassung:Highlights•EARS2 encodes mitochondrial glutamyl t-RNA synthetase. •Homozygous or compound heterozygous pathogenic variants in EARS2 lead LTBL. •The clinical presentation of LTBL can be severe or mild, but with characteristic neuroradiological findings. •We report a patient with compound heterozygous EARS2 variants and atypical clinical and neuroradiological findings.
ISSN:0022-510X
1878-5883
DOI:10.1016/j.jns.2019.116448