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

Mitochondrial diseases comprise a heterogeneous group of disorders due to dysfunction of mitochondrial respiratory chain caused by mutations in both mitochondrial and nuclear genes. EARS2 encodes mitochondrial glutamyl t-RNA synthetase responsible for attaching glutamate to its cognate mitochondrial t-RNA. Hence, EARS2 is critical for protein translation in mitochondria. Homozygous or compound heterozygous EARS2 pathogenic variants are associated with a neurological disorder characterized by leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) [1].

Source: Journal of the Neurological Sciences - September 2, 2019 Category: Neurology Authors: Pankaj Prasun, Cassie Mintz, Emalyn Cork, Thomas P. Naidich, Bryn D. Webb Tags: Letter to the Editor Source Type: research