Neuropathologic description of a rare CHCHD10-mutated amyotrophic lateral sclerosis case


  • 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.