Case Report

Acta Neuropathologica

, Volume 112, Issue 5, pp 633-645

Amyotrophic lateral sclerosis with dementia: an autopsy case showing many Bunina bodies, tau-positive neuronal and astrocytic plaque-like pathologies, and pallido-nigral degeneration

  • Osamu YokotaAffiliated withDepartment of Neuropathology, Tokyo Institute of PsychiatryDepartment of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Email author 
  • , Kuniaki TsuchiyaAffiliated withDepartment of Neuropathology, Tokyo Institute of PsychiatryDepartment of Laboratory Medicine and Pathology, Tokyo Metropolitan Matsuzawa HospitalDepartment of Neurology, Tokyo Metropolitan Matsuzawa Hospital
  • , Tatsurou OdaAffiliated withDepartment of Psychiatry, National Hospital Organization, Shimofusa Psychiatric Center
  • , Takeshi IshiharaAffiliated withDepartment of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
  • , Rohan de SilvaAffiliated withReta Lila Weston Institute of Neurological Studies, University College London
  • , Andrew J. LeesAffiliated withReta Lila Weston Institute of Neurological Studies, University College London
  • , Tetsuaki AraiAffiliated withDepartment of Neuropathology, Tokyo Institute of Psychiatry
  • , Toshiki UchiharaAffiliated withDepartment of Neuropathology, Tokyo Metropolitan Institute for Neuroscience
  • , Hideki IshizuAffiliated withDepartment of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical SciencesDepartment of Laboratory Medicine, Zikei Institute of Psychiatry
    • , Shigetoshi KurodaAffiliated withDepartment of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
    • , Haruhiko AkiyamaAffiliated withDepartment of Neuropathology, Tokyo Institute of Psychiatry

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Abstract

We report the case of a 54-year-old woman with mental retardation who developed frontotemporal dementia and amyotrophic lateral sclerosis (ALS) in the presenium. She presented with dementia at age 48, and motor neuron signs developed at age 53. She had no family history of dementia or ALS. Postmortem examination disclosed histopathological features of ALS, including pyramidal tract degeneration, mild loss of motor neurons, and many Bunina bodies immunoreactive for cystatin C, but not ubiquitin-positive inclusions. Unusual features of this case included severe neuronal loss in the substantia nigra and medial globus pallidus. The subthalamic nucleus, limbic system, and cerebral cortex were well preserved. In addition, neurofibrillary tangles (NFTs) were found in the frontal, temporal, insular, and cingulate cortices, nucleus basalis of Meynert, and locus coeruleus, and to a lesser degree, in the dentate nucleus, cerebellum, hippocampus, and amygdala. No ballooned neurons, tufted astrocytes, or astrocytic plaques were found. Tau immunostaining demonstrated many pretangles rather than NFTs and glial lesions resembling astrocytic plaques in the frontal and temporal cortices. This glial tau pathology predominantly developed in the middle to deep layers in the primary motor cortex, and was frequently associated with the walls of blood vessels. NFTs were immunolabeled with 3-repeat and 4-repeat specific antibodies against tau, respectively. Although the pathophysiological relationship between tau pathology and the selective involvement of motor neurons, substantia nigra, and globus pallidus was unclear, we considered that it might be more than coincidental.

Keywords

Glial lesion Globus pallidus Vessel Neurofibrillary tangle Substantia nigra