DEFINITION OF THE DISEASE Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. EPIDEMIOLOGY The world-wide prevalence of A-T is estimated to be between 1 in 40,000 and ...

BACKGROUND Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease characterized by vascular dysplasia. To the best of our knowledge, we report the first case in the literature of definite hereditary hemorrhagic telangiectasia diagnosed in western Kenya, a resource-limited setting with limited treatment options. CASE PRESENTATION A 60-year-old black Kenyan woman w...

BACKGROUND Our understanding of the effect of ataxia-telangiectasia mutated gene mutations on brain structure and function is limited. In this study, white matter motor pathway integrity was investigated in ataxia telangiectasia patients using diffusion MRI and probabilistic tractography. METHODS Diffusion MRI were obtained from 12 patients (age range: 7-22 years, mean: 12 years) and 12 typic...

• Vol 9 • May 2007 406 Ataxia-telangiectasia is a rare autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, recurrent sinopulmonary infection – all due to immune defects, and a high incidence of mainly B lymphoid malignancy [1]. Ataxiatelangiectasia results from mutations in a single gene, ataxia telangiectasia mutated (ATM). Th...