ArticleBMJ neurology open2020
Case report and literature review of Huntington disease with intermediate CAG expansion.
Article in BMJ neurology open, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review.Journal of Huntington's disease · 2026Review
- Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.European journal of human genetics : EJHG · 2024Article
- Article
- Article
- The enduring enigma of sporadic chorea: A single center case series.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Article
- Late-onset Huntington's disease associated with CAG repeat lengths of 30 and 31.Journal of neurology · 2021Article
- An infrared spectral biomarker accurately predicts neurodegenerative disease class in the absence of overt symptoms.Scientific reports · 2021Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHuntington disease (HD) is a genetically inherited neurodegenerative disorder that classically involves a trinucleotide CAG repeat expansion on chromosome 4, with 36 repeats or greater being disease identifying. It generally presents between the age of 30 and 40 years old and is characterised by severe caudate/striatum degeneration with huntingtin protein aggregation. We present here the case of a patient in her early 80s who presented with 5-year history of worsening chorea and family history of HD but an intermediate length CAG expansion.
methodsGenetic testing of CAG repeats on chromosome 4. Postmortem brain tissue was obtained and stained using immunohistochemistry for amyloid-beta, tau and glial fibrillary acidic protein (GFAP). Sections from the caudate/putamen were also analysed by p62 immunofluorescence. All sections were reviewed by trained neuropathologists.
resultsOn genetic testing the patient was found to have a 28 CAG repeat on the longest expansion. Microscopic analysis revealed significant neuronal atrophy in the caudate and putamen with gliosis. Immunofluorescent staining demonstrated minimal intranuclear p62 inclusions suggesting little huntingtin aggregation present. Furthermore, there was significant amyloid-beta pathology (Thal-IV stage) and tau involvement in the medial temporal lobe (Braak stage II).
conclusionThis case provides clinical and pathological evidence to support an emerging clinical entity involving HD presentation in late age with an intermediate CAG repeat.
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