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Article

Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.

Brain : a journal of neurology - 1 May 2011

Yokoseki Akio, Ishihara Tomohiko, Koyama Akihide, Shiga Atsushi, Yamada Mitsunori, Suzuki Chieko, Sekijima Yoshiki, Maruta Kyoko, Tsuchiya Miyuki, Date Hidetoshi, Sato Tatsuya, Tada Masayoshi, Ikeuchi Takeshi, Tsuji Shoji, Nishizawa Masatoyo, Onodera Osamu

Abstract excerpt

Early onset ataxia with ocular motor apraxia and hypoalbuminaemia/ataxia-oculomotor apraxia 1 is a recessively inherited ataxia caused by mutations in the aprataxin gene. We previously reported that patients with frameshift mutations exhibit a more severe phenotype than those with missense mutations. However, reports on genotype-phenotype correlation in early onset ataxia with ocular motor apraxia and...

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PMID: 21486904
DOI: 10.1093/brain/awr069

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

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