Amyotrophic Lateral Sclerosis With Diffuse Neurofibrillary Changes

Abstract

A 41-year-old male former boxer had amyotrophic lateral sclerosis (ALS) for about eight years prior to his death from bronchopneumonia. Neuropathologic examination revealed, in addition to the classical changes of ALS, numerous neurofibrillary changes (tangles) of the neurons in the cerebrum and brain stem. The tangles were most prominent in Ammon horn, amygdaloid nuclei, and locus caeruleus. Other findings included a moderate degree of neuronal loss and gliosis of the substantia nigra. Granulovacuolar degeneration and Hirano bodies were seen in the neurons of Ammon horn. Senile plaques were not found. The distribution of the tangles resembled that reported in Guamanian ALS. Ultrastructurally, the intracytoplasmic fibrils had a twisted configuration and were similar to those described in Alzheimer disease and Guamanian ALS. The presence and distribution of the neurofibrillary changes in a patient with ALS could well be coincidental; however, the occurrence of the Guamanian type of ALS in the northeastern population of the United States is worth reporting in view of the etiologic and epidemiologic considerations of this form of ALS.