ArticleAnnals of clinical and translational neurology2018
Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.
Article in Annals of clinical and translational neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 16 citations in OpenAlex.
- An unusual presentation of Huntington's disease-like syndrome in a patient with Xeroderma pigmentosum type F: Case report and review of the literature.Clinical parkinsonism & related disorders · 2025Review
- Article
- Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.Brain : a journal of neurology · 2023Article
- Skin Conditions and Movement Disorders: Hiding in Plain Sight.Movement disorders clinical practice · 2022Review
- Xeroderma pigmentosum: an updated review.Drugs in context · 2022Review
- Huntington's disease: lessons from prion disorders.Journal of neurology · 2021Article
- Review of Hereditary and Acquired Rare Choreas.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease-like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease-like phenotypes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.