The neuropathology of CHCHD10-mutated amyotrophic lateral sclerosis (ALS) includes predominantly lower motor neuron degeneration, absent TDP43 immunopathology, and aggregates of predominantly extracellular CHCHD10 which do not contain TDP43.
Why this matters
Heterozygous mutations clustered in exon 2 of mitochondrial coiled-coil-helix-coiled-coil-helix domain-containing 10 (CHCHD10) have recently been described in ALS. This discovery implicates mitochondrial dysfunction in the pathogenesis of ALS.
This study elaborates on recent findings by describing the neuropathology and unique CHCHD10 expression pattern in a patient with CHCHD10-mutated ALS.