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

Authors :
Garcia-Moreno H
Fassihi H
Sarkany RPE
Phukan J
Warner T
Lehmann AR
Giunti P
Source :
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2017 Dec 04; Vol. 5 (1), pp. 102-108. Date of Electronic Publication: 2017 Dec 04 (Print Publication: 2018).
Publication Year :
2017

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.

Details

Language :
English
ISSN :
2328-9503
Volume :
5
Issue :
1
Database :
MEDLINE
Journal :
Annals of clinical and translational neurology
Publication Type :
Academic Journal
Accession number :
29376097
Full Text :
https://doi.org/10.1002/acn3.511