Table 1:

Summary of clinical and pathologic findings in three cases of ALSD

Case No.Age/SexDuration of Illness (yrs/mo)Clinical FindingsBrain Weight (grams)Histologic Findings
169/M2/1
  • Mild dementia

  • Aphasia

  • Dysphagia

  • Muscular atrophy of tongue and shoulder muscle

1,280
  • Mild degeneration of corticospinal tracts in brain stem and spinal cord.

  • Neuronal loss with gliosis in lower motor neurons.

  • Bunina bodies in remaining motor neurons in spinal cord.

  • Microvacuoles, mild neuronal loss, and gliosis in second and third layers of frontal and temporal cortices.

  • Spongiform changes and mild gliosis in frontal and temporal subcortical white matter.

  • Moderate loss of pigmented neurons with gliosis in substantia nigra.

  • Ubiquitin-positive cytoplasmic inclusions in hippocampal dentate granule cells and small neurons in parahippocampal cortex.

250/M5/4
  • Dementia

  • Dysphagia

  • Fasciculation and atrophy of tongue

  • Atrophy of upper and lower extremities, particularly distal part of upper extremities

1,400
  • Mild degeneration of corticospinal tracts in brain stem and spinal cord.

  • Neuronal loss with gliosis in lower motor neurons.

  • Bunina bodies in remaining motor neurons in spinal cord.

  • Microvacuoles, mild neuronal loss, and gliosis in second and third layers of frontal and temporal cortices.

  • Spongiform changes and mild gliosis in frontal and temporal subcortical white matter.

  • Moderate loss of pigmented neurons with gliosis in substantia nigra.

  • Ubiquitin-positive cytoplasmic inclusions in hippocampal dentate granule cells and small neurons in parahippocampal cortex.

369/M5
  • Apathy

  • Depression

  • Change of character

  • Dementia

  • Atrophy of upper and lower extremities

1,200
  • Mild degeneration of corticospinal tracts in brain stem and spinal cord.

  • Neuronal loss with gliosis in lower motor neurons.

  • Bunina bodies in remaining motor neurons in spinal cord.

  • Microvacuoles, mild neuronal loss, and gliosis in second and third layers of frontal and temporal cortices.

  • Tissue rarefaction in subcortical and deep white matters of frontal and temporal lobes.

  • Moderate loss of pigmented neurons with gliosis in substantia nigra.

  • No ubiquitin-positive cytoplasmic inclusions in hippocampal dentate granule cells and other cortical neurons.

  • Note:—ALSD indicates amyotrophic lateral sclerosis with dementia.