Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.

doi:10.1038/s10038-017-0408-5

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Article

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.

Journal of human genetics - 1 Apr 2018

Doi Hiroshi, Koyano Shigeru, Miyatake Satoko, Nakajima Shinji, Nakazawa Yuka, Kunii Misako, Tomita-Katsumoto Atsuko, Oda Kayoko, Yamaguchi Yukie, Fukai Ryoko, Ikeda Shingo, Kato Rumiko, Ogata Katsuhisa, Kubota Shun, Hayashi Noriko, Takahashi Keita, Tada Mikiko, Tanaka Kenichi, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Saitsu Hirotomo, Ogi Tomoo, Aihara Michiko, Takeuchi Hideyuki, Matsumoto Naomichi, Tanaka Fumiaki

Abstract excerpt

Autosomal recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous neurological disorders. Through whole-exome sequencing of Japanese ARCA patients, we identified three index patients from unrelated families who had biallelic mutations in ERCC4. ERCC4 mutations have been known to cause xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anemia phenotypes....

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PMID: 29403087
DOI: 10.1038/s10038-017-0408-5

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ERCC4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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