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Washington University Experience | NEURODEGENERATION | Huntington Disease | 17C Huntington's Dz (Case 17) L6 1C2 40x
Polyglutamine-positive (1C2) intranuclear and cytoplasmic granules are seen in some of the remaining striatal neurons. ---- Not shown: 1C2-immunoreactivity was also seen in granules within the cytoplasm of many cortical neurons. There is no cerebral amyloid angiopathy. No beta-amyloid deposits and no neurofibrillary tangles are seen in the basal forebrain nuclei. There was minimal Alzheimer Disease Neuropathologic Change. ---- Neuro Diagnosis Comment: Macroscopic examination finds atrophy of the caudate nuclei consistent with Grade 2 (range: 0, normal to 4, severe) in the Huntington's Disease Neuropathological Grading Scheme of Vonsattel et al. (PMID: 9596408). Histological slides show severe neuronal loss and gliosis in the caudate nucleus and, to a lesser degree, in the putamen. There is also very mild neuronal loss in neocortical areas, including the frontal, temporal, and parietal lobes. 1C2 immunohistochemistry detects polyglutamine aggregates in the form of neuronal intranuclear inclusions that are the histological hallmark of Huntington's disease. Previous molecular genetic analysis confirmed the polyglutamine expansion in the huntingtin gene. There is minimal evidence of Alzheimer's disease neuropathologic change (A1B1C0) by the NIA-AA scheme
