Garcia-Moreno_et_al-2018-Annals_of_Clinical_and_Translational_Neurology.pdf (230.18 kB)
Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome
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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Publication status
- Published
File Version
- Published version
Journal
Annals of Clinical and Translational NeurologyISSN
2328-9503Publisher
WileyExternal DOI
Issue
1Volume
5Page range
102-108Department affiliated with
- Sussex Centre for Genome Damage Stability Publications
Research groups affiliated with
- Genome Damage and Stability Centre Publications
Full text available
- Yes
Peer reviewed?
- No
Legacy Posted Date
2018-02-09First Open Access (FOA) Date
2018-02-09First Compliant Deposit (FCD) Date
2018-02-09Usage metrics
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