Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

ABSTRACT:

Objective

To describe the features of 2 unrelated adults with xeroderma pigmentosum complementation group F (XP-F) ascertained in a neurology care setting.

Methods

We report the clinical, imaging, molecular, and nucleotide excision repair (NER) capacity of 2 middle-aged women with progressive neurodegeneration ultimately diagnosed with XP-F.

Results

Both patients presented with adult-onset progressive neurologic deterioration involving chorea, ataxia, hearing loss, cognitive deficits, profound brain atrophy, and a history of skin photosensitivity, skin freckling, and/or skin neoplasms. We identified compound heterozygous pathogenic mutations in ERCC4 and confirmed deficient NER capacity in skin fibroblasts from both patients.

Conclusions

These cases illu

SUBMITTER: Shanbhag NM 

PROVIDER: S-EPMC5994703 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature