Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series.

ABSTRACT:

Objective

The prevalence of xeroderma pigmentosum (XP) is quite low in Europe, which may result in a delay in determining the appropriate diagnosis. Furthermore, some subtypes of XP, including XPA, may manifest themselves with quite severe neurological symptoms in addition to the characteristic dermatological lesions. Accordingly, the aim of the current study is to highlight the predominant neurological aspects of XPA, as well as mild-to-moderate dermatological signs in a Hungarian family with 5 affected siblings.

Case reports

The symptoms of the Caucasian male proband started to develop at 13-14 years of age with predominantly cerebellar, hippocampal, and brainstem alterations. His elder sister and three younger brothers all presented similar, but less expressed neurologica

SUBMITTER: Zadori D 

PROVIDER: S-EPMC6940312 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature