Amyotrophic lateral sclerosis-related mutation is not associated with TDP43 immunopathology

Takeaway

  • Loss-of-function mutation in the mitochondrial protein-encoding gene, coiled-coil-helix-coiled-coil-helix domain-containing 10 (CHCHD10) causes a severe loss of anterior horn and hypoglossal motor neurons in amyotrophic lateral sclerosis (ALS).

Why this matters

    Identifying the neuropathology and unique immunostaining pattern in an individual with CHCD10 mutated ALS is important for understanding the pathologic mechanisms underlying an ALS clinical phenotype.