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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

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posted on 2023-06-09, 12:00 authored by Alan LehmannAlan Lehmann
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

History

Publication status

  • Published

File Version

  • Published version

Journal

Annals of Clinical and Translational Neurology

ISSN

2328-9503

Publisher

Wiley

Issue

1

Volume

5

Page range

102-108

Department 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

2018-02-09

First Open Access (FOA) Date

2018-02-09

First Compliant Deposit (FCD) Date

2018-02-09

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