# Late-Onset Huntington’s Disease: A Case Report and Literature Review

**Authors:** Carlos Gonçalves, Ana Sofia Ferreira, André Calheiros, Rafael Lopes Freitas, Goncalo Cacao

PMC · DOI: 10.7759/cureus.102298 · Cureus · 2026-01-26

## TL;DR

This paper reports a rare case of Huntington’s disease diagnosed in an 80-year-old man, emphasizing the importance of considering the disease in late-onset neurological symptoms.

## Contribution

The novelty lies in presenting a confirmed case of late-onset Huntington’s disease without family history, aiding in diagnostic awareness.

## Key findings

- An 80-year-old man with late-onset chorea and cognitive decline was diagnosed with Huntington’s disease via genetic testing.
- Neuroimaging showed ischemic leukoencephalopathy, complicating the diagnosis of late-onset Huntington’s disease.
- The case underscores the need to consider HD in differential diagnoses of late-onset neurological symptoms.

## Abstract

Huntington’s disease (HD) is a rare autosomal dominant neurodegenerative disorder caused by expansion of the cytosine-adenine-guanine (CAG) trinucleotide repeat in the huntingtin (HTT) gene. Although the disease typically presents in mid-adulthood, symptom onset after the age of 60, defined as late-onset Huntington’s disease (LoHD), remains uncommon and may pose diagnostic challenges. We report the case of an 80-year-old man admitted for evaluation of progressive unintentional weight loss, whose clinical assessment revealed generalized chorea and progressive cognitive decline. Genetic testing identified an expanded CAG allele with 39 repeats, confirming the diagnosis of LoHD. Neuroimaging revealed ischemic leukoencephalopathy consistent with cerebral small vessel disease (CSVD), contributing to diagnostic complexity. This case highlights the importance of considering Huntington’s disease in the differential diagnosis of late-onset chorea and cognitive impairment, even in the absence of a known family history.

## Linked entities

- **Genes:** HTT (huntingtin) [NCBI Gene 3064]
- **Diseases:** Huntington’s disease (MONDO:0007739)

## Full-text entities

- **Genes:** HTT (huntingtin) [NCBI Gene 3064] {aka HD, IT15, LOMARS}, FAN1 (FANCD2 and FANCI associated nuclease 1) [NCBI Gene 22909] {aka KIAA1018, KMIN, MTMR15, hFAN1}, MSH3 (mutS homolog 3) [NCBI Gene 4437] {aka DUP, FAP4, MRP1}
- **Diseases:** executive dysfunction (MESH:D006331), involuntary movements (MESH:D020820), dementia (MESH:D003704), underweight (MESH:D013851), neuronal loss (MESH:D009410), age-related disorders (MESH:D008569), Cognitive deterioration (MESH:D003072), rigidity (MESH:D009127), familial disease (MESH:D057180), bradykinesia (MESH:D018476), hypertension (MESH:D006973), dysphagia (MESH:D003680), weight loss (MESH:D015431), dehydration (MESH:D003681), loss of functional autonomy (MESH:D006315), oculomotor abnormalities (MESH:D015840), acute kidney injury (MESH:D058186), hypokinetic (MESH:D004401), functional deterioration (MESH:D003291), ischemic leukoencephalopathy (MESH:D056784), gait disturbance (MESH:D020233), autoimmune/paraneoplastic syndromes (MESH:D010257), hyperkinesias (MESH:D006948), CSVD (MESH:D059345), neurological disorders (MESH:D009461), chorea (MESH:D002819), dystonia (MESH:D004421), loss of (MESH:D016388), parkinsonian syndromes (MESH:D020734), autosomal dominant neurodegenerative disorder (MESH:D019636), respiratory infections (MESH:D012141), atrophy (MESH:D001284), dementia with Lewy bodies (MESH:D020961), HD (MESH:D006816), corticobasal syndrome (MESH:D000088282), Psychiatric (MESH:D001523)
- **Chemicals:** deoxyribonucleic (-), haloperidol (MESH:D006220)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12933508/full.md

## References

10 references — full list in the complete paper: https://tomesphere.com/paper/PMC12933508/full.md

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Source: https://tomesphere.com/paper/PMC12933508