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 (g...

Full description

Saved in:
Bibliographic Details
Published in:Annals of clinical and translational neurology 2018-01, Vol.5 (1), p.102-108
Main Authors: Garcia‐Moreno, Hector, Fassihi, Hiva, Sarkany, Robert P.E., Phukan, Julie, Warner, Thomas, Lehmann, Alan R., Giunti, Paola
Format: Article
Language:English
Subjects:
Brief Communication
Brief Communications
Huntingtons disease
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2328-9503
2328-9503
DOI:10.1002/acn3.511