{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T21:22:56Z","timestamp":1783200176819,"version":"3.54.6"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T00:00:00Z","timestamp":1733702400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T00:00:00Z","timestamp":1733702400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Medizinische Fakult\u00e4t Mannheim der Universit\u00e4t Heidelberg"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Genetic alterations in the <jats:italic>ERCC4<\/jats:italic> gene typically cause Xeroderma pigmentosum and other nucleotide excision repair disorders. Neurologic symptoms are present in some of these patients. In rare cases, <jats:italic>ERCC4<\/jats:italic>-mutations can manifest with prominent neurologic symptoms. We report a 62-year-old woman who presented with a movement disorder caused by a homozygous pathogenic variant in the <jats:italic>ERCC4<\/jats:italic> gene. She presented with a hyperkinetic movement disorder (chorea) that affected the distal limbs as well as facial muscles and jaw. There was no ataxia. Extensive clinical evaluation revealed predominantly fronto-parietal and cerebellar atrophy on brain MRI with sparing of the basal ganglia and mesial temporal lobe. Iron and sparse Ca<jats:sup>2+<\/jats:sup> deposits were found in the basal ganglia. The detailed neuropsychological evaluation revealed deficits indicating subcortical-prefrontal, subcortical-parietal and frontotemporal dysfunction, without significant impairments in activities of daily living. The audiogram revealed mild age-related hearing impairment, electroneurography was unremarkable without signs of polyneuropathy. The dermatologic examination showed no signs of skin cancer. Knowledge about <jats:italic>ERCC4<\/jats:italic>-related neurodegeneration is limited and the disease is likely underdiagnosed. Nucleotide Excision Repair Disorder-related neurodegeneration should be considered as a differential diagnosis in patients with adult-onset neurodegenerative disorders, even if dermatologic complications are absent and the family history is negative. The preserved caudate volume in our ERCC4 patient could be a hint towards this rare condition. Treatment is symptomatic. Once the diagnosis is established, patients need to be advised to have regular medical consultations to prevent disease complications such as skin cancer.<\/jats:p>","DOI":"10.1007\/s12311-024-01755-1","type":"journal-article","created":{"date-parts":[[2024,12,9]],"date-time":"2024-12-09T04:02:30Z","timestamp":1733716950000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Beyond Huntington\u2019s Disease \u2013 Late-Onset Chorea Caused by a Homozygous Variant in ERCC4"],"prefix":"10.1007","volume":"24","author":[{"given":"Paula C.","family":"Barthel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Popa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Ebert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherif A.","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jochen","family":"Weishaupt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Conrad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,9]]},"reference":[{"key":"1755_CR1","unstructured":"Kraemer KH, DiGiovanna JJ, Tamura D. Xeroderma Pigmentosum. In: GeneReviews(\u00ae). edn. Edited by Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A. Seattle (WA): University of Washington, Seattle."},{"issue":"5","key":"1755_CR2","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 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