Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome

Lehmann, Alan (2017) Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome. Annals of Clinical and Translational Neurology, 5 (1). pp. 102-108. ISSN 2328-9503

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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

Item Type: Article
Schools and Departments: School of Life Sciences > Sussex Centre for Genome Damage and Stability
Research Centres and Groups: Genome Damage and Stability Centre
Subjects: Q Science > Q Science (General)
Depositing User: Sarah Frances
Date Deposited: 09 Feb 2018 12:16
Last Modified: 09 Feb 2018 12:16
URI: http://sro.sussex.ac.uk/id/eprint/73441

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