Thelansis

 Ataxia telangiectasia (A-T), also known as Louis-Bar syndrome, is a rare genetic disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene located on chromosome 11q22-23. These mutations result in a loss of function of the ATM protein, which plays a crucial role in cellular DNA repair, cell cycle control, and cellular response to external triggers such as ionizing radiation and alkylating agents. The clinical manifestation of A-T is characterized by a combination of neurological and systemic symptoms, including cerebellar atrophy with progressive ataxia, cutaneous telangiectasias, increased incidence of malignancy (particularly lymphoid malignancy), radiosensitivity, immune deficiency, recurrent sinopulmonary infections, and high levels of alpha-fetoprotein in serum. The mechanism underlying the formation of telangiectasia, a hallmark of the disorder, remains unknown. The survival of patients with ataxia telangiectasia is greatly affected by attentive care and c...

 Ataxia telangiectasia, also known as Louis-Bar syndrome, is a rare genetic form of early-onset autosomal recessive ataxia resulting from mutations in the ataxia telangiectasia mutated (ATM) gene located on chromosome 11q22-23. The disease is characterized by a combination of neurological and systemic symptoms, including cerebellar atrophy with progressive ataxia, cutaneous telangiectasias, a higher incidence of malignancy (particularly lymphoid malignancy), radiosensitivity, immune deficiency, recurrent sinopulmonary infections, and high levels of alpha-fetoprotein in serum. The impairment of cells to respond to different pathogenic triggers, such as ionizing radiation and alkylating agents, is due to the ATM gene mutation, leading to aberrant repair of the breaks of double-strand DNA. This defect results in cell death in susceptible tissues, such as the cerebellum, and malignant proliferation. Nonsense, frameshift, missense, and insertion-deletion mutations of the ATM gene associ...