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Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.

Clinical immunology (Orlando, Fla.) - 1 Aug 2021

Kato Tamaki, Tamura Yoshiteru, Matsumoto Hiroshi, Kobayashi Osamu, Ishiguro Hideaki, Ogawa Masaya, Tsujikawa Koyo, Hasegawa Yasuhiro, Sakamoto Mitsuhiro, Konagaya Masaaki, Houzen Hideki, Takagi Masatoshi, Imai Kohsuke, Morio Tomohiro, Yokoseki Akio, Onodera Osamu, Nonoyama Shigeaki

Abstract excerpt

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is a neurodegenerative disorder caused by mutation in the aprataxin (APTX)-coding gene APTX, which is involved in DNA single-strand break repair (SSBR). The neurological abnormalities associated with EAOH are similar to those observed in patients with ataxia-telangiectasia. However, the immunological abnormalities in patients with EAOH have...

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PMID: 34118401
DOI: 10.1016/j.clim.2021.108776

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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