ArticleBrain pathology (Zurich, Switzerland)2007
Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's disease.
Article in Brain pathology (Zurich, Switzerland), 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.European journal of human genetics : EJHG · 2013Guideline
- A shared DNA-repeat toxicity threshold, reached somatically at cell-type-specific rates, unites cortical and striatal neurodegeneration in Huntington's disease.bioRxiv : the preprint server for biology · 2025Article
- Postmortem neuropathology in early Huntington disease.Journal of neuropathology and experimental neurology · 2024Article
- Deciphering the roles of trehalose and Hsp104 in the inhibition of aggregation of mutant huntingtin in a yeast model of Huntington's disease.Neuromolecular medicine · 2014Article
- Huntington's disease (HD): degeneration of select nuclei, widespread occurrence of neuronal nuclear and axonal inclusions in the brainstem.Brain pathology (Zurich, Switzerland) · 2014Article
- Synaptic mutant huntingtin inhibits synapsin-1 phosphorylation and causes neurological symptoms.The Journal of cell biology · 2013Article
- Protein misfolding detected early in pathogenesis of transgenic mouse model of Huntington disease using amyloid seeding assay.The Journal of biological chemistry · 2012Article
- Article
- Early defect of transforming growth factor β1 formation in Huntington's disease.Journal of cellular and molecular medicine · 2011Article
- Neuroanatomic profile of polyglutamine immunoreactivity in Huntington disease brains.Journal of neuropathology and experimental neurology · 2009Article
- Islet beta-cell area and hormone expression are unaltered in Huntington's disease.Histochemistry and cell biology · 2008Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To evaluate the usefulness of neuronal intranuclear inclusions and neuropil inclusions for the pathological assessment of Huntington's disease (HD), their presence in neocortex was assessed by ubiquitin and N-terminal huntingtin immunohistochemistry in a consecutive series of 195 autopsy brains of individuals with a positive or tentative clinical diagnosis of, or at risk for, HD. The findings were correlated with striatal pathology (n = 190), CAG repeat length (n = 85) and original pathological diagnosis (n = 186). The antibodies detected both these inclusions in 181 patients with HD pathology > or = Vonsattel et al's grade I, five patients lacking striatal tissue for review, and two at-risk individuals with grade 0 and grade I HD pathology, respectively. One patient with HD-like pathology and two patients and four at-risk individuals without HD pathology lacked HD inclusions. In the genetically analyzed cases, the inclusions were exclusively and consistently observed in association with repeat expansion [(CAG)(n) > or = 39, n = 81]. Thirteen inclusion-positive cases, including the grade 0 at-risk individual, had a false negative original pathological diagnosis of HD and four had an unjustly questionable diagnosis. A false positive diagnosis was made in the inclusion-negative case with HD-like pathology. These results indicate that immunohistochemical analysis for HD inclusions facilitates the pathological evaluation of HD and enhances its accuracy.
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