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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ataxia telangiectasia (Louis-Bar syndrome) represents a disease of childhood, characterized by diffuse telangiectasia of the skin and the conjunctivae and cerebellar ataxia. Patients are frequently predisposed for infections due to disturbances of the cellular and humoral immunity. This paper discusses the syndrome referring to an own observation of ataxia telangiectasia and literature of the past.
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PMID:[Ataxia telangiectasia (Louis-Bar syndrome)]. 52 Dec 74

The clinicalpathological findings in a 32-year old woman with ataxia-telangiectasia are presented. This is the oldest patient with this disease to be studied thoroughly clinically and at autopsy. Multiple small gliovascular malformations in the brain and spinal cord and telangiectasis of the liver were found. Other advanced lesions of ataxia-telangiectasia are illustrated. The vascular malformations of the central nervous system and liver are unique. The patient died of a malignant lymphoproliferative disorder and had five other malignant and benign neoplasms.
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PMID:Ataxia-telangiectasia with a 32 year survival. A clinicopathological report. 53 61

An autopsy case report of a Louis-Bar syndrome (Ataxia telangiectasia) is given on a 9 year-old boy who was ill for 7 years. The Louis-Bar syndrome mostly is a hereditary familial disease transmitted by an autosomal recessive gene. We are considering the syndrome as a special form of hereditary ataxias which is morphologically belonging to the systematic atrophies of the cerebellum and, above all, combined with oculo-cutaneous telangiectasia and an immunopathy. As a peculiarity the present case exhibited the existence of generalized angiectasia (cerebellum, meninges, dura mater, epiphysis, skin, eyes, lungs, spleen, kidney).
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PMID:[Contribution to the Louis-Bar syndrome (ataxia telangiectasia) (author's transl)]. 72 1

Ataxia-telangiectasia is clinically characterized by the presence of cerebellar ataxia, choreoathetosis, and oculocutaneous telangiectasia. Humorocellular immune deficiency may be associated with the disease. So far, no coagulation abnormalities have been reported in patients with ataxia-telangiectasia. Presence of Hageman factor deficiency in our patient could merely be a coincidental occurrence of two rare independent disease states. Since this coagulation abnormality in Hageman factor deficiency is rather subtle and not usually associated with clinically significant bleeding, this defect can be easily overlooked.
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PMID:Hageman factor deficiency in ataxia telangiectasia. 101 17

Although an isolated clinical case report was published in 1926 and another in 1941, ataxia-telangiectasia (A-T) was not established as a distinct entity until 1957, when it was first delineated clinicopathologically. Susceptibility to sinopulmonary infection was identified as the main cause of death and as the third major component of the syndrome; its heredofamilial nature was documented, and it was designated "ataxia-telangiectasia." In a later review of 101 published cases, lymphoreticular malignancy emerged as the second most frequent cause of death. Although the thymus was found to be absent in the first reported autopsy in 1957 and the serum IgA deficiency was first recorded in 1961, A-T was not established as an immunodeficiency disease until 1963. Thymic abnormality and dysgammaglobulinemia explain the 2 main causes of death, sinopulmonary and neoplastic, but the immunodeficiency is probably not the central defect. It does not appear to explain either of the 2 main clinical diagnostic keys, the ataxia and the telangiectasia, or any of the other seemingly unrealted multisystemic facets of this complex disorder. Some of our most provocative long-term clinical observations and recent pathologic findings in our series of 9 autopsies are discussed.
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PMID:Ataxia-telangiectasia: some historic, clinical and pathologic observations. 109 82

Seventy individuals with ataxia telangiectasia were studied: 29 females and 41 males with an age range of 2 to 42 years. The majority (43/68) presented by 3 years of age with truncal ataxia. All had progressive, handicapping neurological symptoms exhibiting ataxia (70/70), ocular motor apraxia (70/70), an impassive face (70/70), dysarthria (70/70), chorea (68/70), dystonia (55/70) and peripheral neuropathy (50/70). Clinical immune deficiency was present in 43 of 70 patients. Ocular telangiectasia were seen in all but one case and excessive thinness in 54 of 70. The mean age of loss of walking was 10 years and of writing 8 years. All 60 tested showed increased sensitivity to ionizing irradiation, 43 of 48 had an elevated alpha-fetoprotein level and 14 of 21 had an immunoglobulin deficiency. Although there was a marked variation in disease findings sibs were always similar. The heterogeneity seen seems at odds with the unilocus linkage of ataxia telangiectasia to 11q23.
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PMID:Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. 137 28

Ataxia telangiectasia may present with few, if any, of its typical extraneurological manifestations, but the combination of an extrapyramidal movement disorder, ocular motor apraxia with head thrusting and cerebellar incoordination is characteristic. In this sporadic case there was no overt immune dysfunction, oculocutaneous telangiectasia were inconspicuous and the neurological presentation was atypical with dystonia predominating over cerebellar incoordination. The uncontrollable and disabling involuntary movements, which have not to our knowledge been described in ataxia telangiectasia before, showed a partial response to moderately large doses of benzhexol, but were refractory to all other medications. Treatment in the future is to be with increasing doses of benzhexol until the dystonia is controlled or larger doses cannot be tolerated.
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PMID:Ataxia telangiectasia presenting as an extrapyramidal movement disorder and ocular motor apraxia without overt telangiectasia. 172 61

Ataxia-telangiectasia (A-T) is an autosomal recessive, multisystem disease characterized clinically by the onset of progressive cerebellar ataxia at about one year of age, followed by the development of fan-shaped telangiectasia of bulbar conjunctiva, usually at four- to six-years of age; and frequent sinopulmonary infections. The outstanding pathological findings in the central nervous system in A-T are loss of Purkinje cells and, to a lesser degree, basket and granular cells of the cerebellum. Although choreoathetosis and myoclonic jerks had been described in patients with A-T, torticollis has never been reported in the literature. A 7-year-old girl with A-T and torticollis is therefore presented in this paper.
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PMID:Ataxia-telangiectasia associated with torticollis: report of a case. 177 44

We report on a microcephalic, growth-retarded newborn girl without major anomalies who has chromosome instability in lymphocytes and fibroblasts. Frequent involvement of bands 7p13, 7q34, 14q11, and 14q32 suggested the diagnosis of ataxia telangiectasia (AT) or a related disorder. Supportive evidence was radioresistant DNA synthesis in fibroblasts and radiation hypersensitivity of short-term lymphocyte cultures. Follow-up for nearly 4 years showed largely normal development, and no signs of telangiectasia, ataxia, or immunodeficiency. Serum AFP levels turned from elevated at age 5 months to normal at age 2 years. We propose that our patient belongs to the expanding category of "AT-related" genetic disorders, probably to the Nijmegen breakage syndrome.
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PMID:Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child. 188 49

A number of characteristics in the human genetic disorder ataxia-telangiectasia are compatible with an alteration to chromatin structure or the recognition of that structure by an enzyme or DNA binding protein. We describe here reduce activity of DNA topoisomerase type II in a number of Epstein Barr Virus-transformed ataxia-telangiectasia lymphoblastoid cell lines. Enzyme activity was reduced 10-fold or greater in 4 out of 5 cell lines compared to controls. In the remaining cell line approximately a 2-3 fold reduction was evident in partially purified extracts. DNA topoisomerase type I activity was found to be the same as controls in all the cell lines. Northern blot analysis revealed that the same level of DNA topoisomerase II mRNA was expressed in ataxia-telangiectasia and control cell lines. The size and amount of the enzyme did not differ appreciably from that observed in control cells. The reduced activity of DNA topoisomerase II in ataxia-telangiectasis cells might be explained by amino acid substitutions, small deletions in DNA or by a defect in post-translational modification in these cells.
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PMID:Defective DNA topoisomerase II in ataxia-telangiectasia cells. 196 59


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