Ontology highlight
ABSTRACT:
SUBMITTER: Garcia-Moreno H
PROVIDER: S-EPMC5771320 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
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]