MRI—massive cortical and subcortical atrophy Sagittal section.

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Hyperpigmentation lesions on lower limbs.

MRI—massive cortical and subcortical atrophy frontal section.

Genetic examination and family study of the ERCC4 gene. (A) Proband’s...

Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea

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Feb 2023

Joanna Kulikowska
Anna Jakubiuk-Tomaszuk
Małgorzata Rydzanicz
[...]
Katarzyna Kapica-Topczewska

Variants in the ERCC4 gene have been described to be associated with the following autosomal recessive diseases: xeroderma pigmentosum group F (XPF), xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS), Fanconi anemia complementation group Q (FANCQ), and XFE progeroid syndrome (XFEPS). In this paper, we present a case of a 53-year-old Caucasian...