Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia

Common Name(s)

Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia, Ataxia-telangiectasia-like disorder

Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT; {208900}), but telangiectases and immune deficiency are not present in ATLD1 (summary by {4:Hernandez et al., 1993} and {8:Stewart et al., 1999}). Genetic Heterogeneity of Ataxia-Telangiectasia-Like Disorder See also ATLD2 ({615919}), caused by mutation in the PCNA gene ({176740}) on chromosome 20p12.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Evolution of Albumin on AOA1 Patients Supplemented With Coenzyme Q10
 

Status: Recruiting

Condition Summary: Ataxia-oculomotor Apraxia 1

 

Last Updated: 16 Jun 2016

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