Abstract

Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease characterized by neurocognitive decline and abnormal neuronal and glial deposition of hyperphosphorylated-tau in a pattern distinct from other tauopathies. These changes are hypothesized to occur following repeated mild traumatic brain injury. We report a case of CTE-like neuropathological changes, and features of motor neuron disease in a patient without history of either head trauma or participation in activities associated with increased risk of concussive or sub-concussive blows. A 45-year-old man with a 7-year history of clinically diagnosed amyotrophic lateral sclerosis was discovered dead by his wife following a 4-hour unattended sleep. Microscopically, neurofibrillary tangles and neuropil threads were seen in the frontal and temporal cortices in the superficial cortical layers, in the depths of sulci, and surrounding blood vessels. Glial tau pathology included astrocytic tangles in a perivascular and subpial distribution. TDP-43 inclusions were seen in the spinal cord. No MAPT mutations or C9ORF72 repeat expansions were detected. Although CTE has been found only in patients with a history of head trauma thus far, our case potentially highlights the complexity in the pathogenesis of this disorder.

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