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Ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome [AOA]; MIM 208920) is an autosomal recessive disorder characterized by ataxia, oculomotor apraxia, and choreoathetosis. These neurological features resemble those of ataxia-telangiectasia (AT), but in AOA there are none of the extraneurological features of AT, such as immunodeficiency, neoplasia, chromosomal instability, or sensitivity to ionizing radiation. It is unclear whether these patients have a true disorder of chromosomal instability or a primary neurodegenerative syndrome, and it has not been possible to identify the defective gene in AOA, since the families have been too small for linkage analysis. We have identified a new family with AOA, and we show that the patients have no evidence of chromosomal instability or sensitivity to ionizing radiation, suggesting that AOA in this family is a true primary cerebellar ataxia. We have localized the disease gene, by linkage analysis and homozygosity mapping, to a 15.9-cM interval on chromosome 9q34. This work will ultimately allow the disease gene to be identified and its relevance to other types of autosomal recessive cerebellar ataxias to be determined.

Original publication

DOI

10.1016/S0002-9297(07)62962-0

Type

Journal article

Journal

Am J Hum Genet

Publication Date

11/2000

Volume

67

Pages

1320 - 1326

Keywords

Apraxias, Ataxia Telangiectasia, Ataxia Telangiectasia Mutated Proteins, Cell Cycle Proteins, Cerebellar Ataxia, Chromosome Mapping, Chromosomes, Human, Pair 9, Consanguinity, DNA Damage, DNA Repair Enzymes, DNA-Binding Proteins, Female, Genes, Recessive, Genetic Linkage, Homozygote, Humans, Lod Score, Lymphocytes, Male, Nuclear Proteins, Pakistan, Pedigree, Protein-Serine-Threonine Kinases, RNA, Messenger, Syndrome, Tumor Suppressor Proteins, X-Rays