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

J Neurol Sci. 2019 Nov 15:406:116448. doi: 10.1016/j.jns.2019.116448. Epub 2019 Sep 3.

Authors

Pankaj Prasun¹, Cassie Mintz², Emalyn Cork², Thomas P Naidich³, Bryn D Webb²

Affiliations

¹ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA. Electronic address: [email protected].
² Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.
³ Department of Radiology, Icahn School of Medicine at Mount Sinai, New York, USA.

No abstract available

Keywords: Brain stem; EARS2; Leukodystrophy; Leukoencephalopathy; Mitochondria; Thalamus.

Publication types

Case Reports
Letter

MeSH terms

Brain Stem / diagnostic imaging*
Child, Preschool
Female
Glutamate-tRNA Ligase / genetics*
Humans
Leukoencephalopathies / diagnostic imaging*
Leukoencephalopathies / genetics*
Magnetic Resonance Imaging / methods
Thalamus / diagnostic imaging*

Substances

Glutamate-tRNA Ligase

Grants and funding

K08 HD086827/HD/NICHD NIH HHS/United States