Identity of hereditary cerebellar ataxia, peripheral neuropathy, and hypoalbuminemia

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Early onset cerebellar ataxia with hypoalbuminemia (EOCA-HA) in Japan and autosomal recessive trait of cerebellar ataxia with ocular aparaxia (AOA) in Portugal are clinically and genetically allelelic disorders. Candidate gene of those disorders are located at chromosome 9pl3.3 by homozygous mapping. Its candidate gene was called "Aprataxin". The human aparataxin gene was about 10 kb length and its cDNA was 2.2kb length with 7 exons. The long transcript was constituted with 342 amino acids and the short form was constiyuted with 168 by alternative splicing in exon 3. The mutation of aprataxin gene in EOCA-HA showed most of 689 insertion T homozygously, and small number of compound heterozygote of 689 insertion T and 617C-T. Present our 5 cases had all 689 insertion T homozygously. Based on those observations, 689 insertion T was founder in Japanese EOCA-HA patients.