Table of Contents
Washington University Experience | NEURODEGENERATION | Huntington Disease | 8F3 HD (Case 8) L6 1C2 put 1C2 100X
Polyglutamine-positive (1C2) inclusions are numerous in the caudate and putamen. ---- Neuro Diagnosis Comment: Macroscopy shows atrophy of the caudate nucleus consistent with Grade 3 (range: 0, normal to 4, severe) in the Huntington's Disease Neuropathological Grading Scheme of Vonsattel et al. (PMID: 9596408). Previous molecular genetic analysis confirmed the polyglutamine expansion in the huntingtin gene (expansion size not available). Microscopy of representative neocortical areas also shows sparse neurofibrillary tangles, consistent with stage 1 of a six-stage scale in the Braak and Braak staging of tangles; no amyloid plaques are noted, consistent with amyloid stage 0 (range: 0, A-C) (3). This finding of minimal neurofibrillary tangles is considered a very early sign of Alzheimer's disease and is insufficient to meet the neuropathological criteria for the diagnosis of Alzheimer's disease (AD) according to the criteria of Khachaturian, CERAD, or the NIA-Reagan Institute. Taken together, these pathological features suggest that the patient's motor problems, cognitive, and psychiatric symptoms can be sufficiently explained by Huntington's disease. The Alzheimer’s disease-type changes and vascular pathology were at very early stages and unlikely to have contributed to the clinical picture. There was no evidence of any other neurodegenerative disease.
