BackgroundAtaxia telangiectasia (A-T) is a common genetically inherited cause of early childhood-onset ataxia. The infrequency of this disease, vast phenotype variation, disorders with features similar to those of A-T, and lack of definite laboratory test, make diagnosis difficult.  In addition, there is no rapid reliable laboratory method for identifying A-T heterozygotes, who susceptible to i...

neurodegenerative disorders, clinically characterized by a cerebellar syndrome with imbalance, unsteady gait and limb incoordination, dysarthria, and disturbed eye movements. Often there are additional neurological or systemic signs, which are highly variable depending on the genetic subtype and on the individual phenotype. The genetic background of heredoataxias has been largely identified dur...

Ataxia Telangiectasia (A-T) is an autosomal recessive hereditary progressive neurodegener‐ ative and multisystem disease characterized by cerebellar ataxia, telangiectasia, recurrent si‐ nopulmonary infections, variable immunologic defects among which a significantly higher incidence of leukaemia and lymphoma and type 2 diabete. This disorder has been clearly linked to the loss of expression of...

BACKGROUND To our knowledge, there have been no reports on the control of central nervous system symptoms in patients with ataxia-telangiectasia. OBJECTIVE To preliminarily determine the effectiveness of corticosteroid therapy on the central nervous system symptoms of a child with ataxia-telangiectasia in whom neurological signs improved when, occasionally, he was given betamethasone to treat...

Three normal human fibroblast strains, two human ataxia telangiectasia heterozygote cell strains, and two human ataxia telangiectasia homozygote cell strains were studied for their thermal responses between 41.0 and 46.0 degrees. The heat sensitivities of all cell strains were comparable, and all cell strains were relatively heat resistant compared to Chinese hamster cells. Both normal and atax...

Ataxia-Telangiectasia (AT) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition. The ATM gene on human chromosome 11q22.3 has recently been identified as the gene responsible for ataxia-telangiectasia (AT). The gene mutated in AT, which has been designated as the ATM gene, encodes a large protein kinase with a PI...

Diese Dissertation wurde selbständig, ohne unerlaubte Hilfe erarbeitet. " Insights into DNA double-strand break repair and ataxia-telangiectasia like disease from the structure of an Mre11-Nbs1 complex " , manuscript in preparation.

ataxia-telangiectasia (at) is a rare human neurodegenerative autosomal recessive multisystem disease characterized by a wide range of features including progressive cerebellar ataxia during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. mitochondrial dna (mtdna) has the only non-...

Ten new patients with ataxia telangiectasia-like disorder (ATLD) from three unrelated Saudi Arabian families have been identified aged 5-37 representing the largest cohort of ATLD patients ever identified. They presented with an early-onset, slowly progressive, ataxia plus ocular apraxia phenotype with an absence of tumor development, even in the oldest patient. Extra-neurological features such...