Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series.
Dénes ZádoriLászló SzpisjakIstván Balázs NémethZita ReiszGabor G KovacsNoémi SzépfalusiViola Luca NémethZoltán MarótiEdit Tóth-MolnárJudit OláhLászló VécseiPéter KlivényiKalmár TiborPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2019)
In summary, we present the first family with genetically confirmed XPA in the Central-Eastern region of Europe, clearly supporting the notion that disturbed function of the C-terminal region of the XPA protein contributes to the development of age-dependent neurologically predominant signs. This case series may help clinicians recognize this rare disorder.