Unknown

Dataset Information

0

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


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.

SUBMITTER: Garcia-Moreno H 

PROVIDER: S-EPMC5771320 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

altmetric image

Publications

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

Garcia-Moreno Hector H   Fassihi Hiva H   Sarkany Robert P E RPE   Phukan Julie J   Warner Thomas T   Lehmann Alan R AR   Giunti Paola P  

Annals of clinical and translational neurology 20171204 1


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  ...[more]

Similar Datasets

| S-EPMC4000305 | biostudies-literature
| S-EPMC5379700 | biostudies-literature
| S-EPMC1050673 | biostudies-other
| S-EPMC2837287 | biostudies-literature
| S-EPMC8624855 | biostudies-literature
| S-EPMC4588225 | biostudies-other
| S-EPMC8391564 | biostudies-literature
| S-EPMC5652786 | biostudies-literature
| S-EPMC6768713 | biostudies-literature
| S-EPMC2562952 | biostudies-literature