Cases Of Ataxia Telangiectasia Research Articles

A case of ataxia-telangiectasia with cerebellar ataxia and involuntary movements from early childhood, for which serological examination was useful for early diagnosis

A case of ataxia-telangiectasia with cerebellar ataxia and involuntary movements from early childhood, for which serological examination was useful for early diagnosis

A Rare Case of Ataxia Telangiectasia in Malaysia

Ataxia telangiectasia is a primary immunodeficiency disease that affects multiple organs systems. Affected patients typically manifest ataxia, immune function abnormalities, sinopulmonary infections, and telangiectasia. Ataxia telangiectasia is listed as a rare disease by the Office of Rare Diseases [ORD] of the National Institutes of Health [NIH]. Because ataxia telangiectasia is so rare, doctors may not be familiar with the symptoms, or methods of making a diagnosis. Not all children develop in the same manner or at the same rate; it may be some years before ataxia telangiectasia is properly diagnosed. We report a rare case of ataxia telangiectasia in Malaysia who was diagnosed only at the age of 10 years.Bangladesh Journal of Medical Science Vol.16(1) 2017 p.154-156

Ataxia Telangiectasia: Case Report from a Rural Hospital in Nepal and Current Management Recommendation

It is important though challenging to make accurate diagnosis of neurodegenerative conditions in children and initiate the right treatment. A 14 years old boy presented with deterioration in speech, mobility and performance of daily activities and frequent chest infections over four years. Aided ataxic gait, dysarthria, stooped posture, generalised hypotonia and weakness and ocular telangiectasia were noted. We present a case of Ataxia telangiectasia from a rural hospital in Nepal. DOI: http://dx.doi.org/10.3126/jnps.v34i2.9694 J Nepal Paediatr Soc 2014;34(2):138-140 

A rare case of ataxia telangiectasia with intracranial tumor

Ataxia telangiectasia is a rare autosomal recessive multisystem disorder results in neurodegeneration, variable immunological abnormality that leads to recurrent sinopulmonary infection, febrile episodes, progressive cerebellar ataxia, ocular, and cutaneous telangiectasias. We report a case of 3-year-old Indian boy with recurrent episodes of fever and sinopulmonary infection and repeated hospitalization, rapidly progressive neurological symptoms. On clinical examination no ophthalmological or dermatological lesion was detected. On laboratory and immunological investigation polymorphonuclear leukocytosis with mild normocytic hypochromic anemia, IgA level of 39 mg/dl, alphafetoprotein level of 35 IU/L and normal interictal EEG was noted. Nerve conduction studies (NCS) was suggestive of wide spread early demyelinating polyradiculopathy. MRI shows a suprasellar tumor. The patient was diagnosed to be Ataxia telangiectasia (AT) according to diagnostic criteria of Ataxia-Telangiectasia Clinical Center. Patient was treated with pulse methyl prednisolone and IVIG. Further CD4/CD8 count, IgG subfraction estimation, leucocyte phagocytic activity and mutation analysis of ATM gene should be done to confirm the diagnosis.

Ataxia telangiectasia with abnormal cellular immunity

Ataxia telangiectasia (AT) is an autosomal recessive syndrome characterized by progressive cerebellar ataxia, immunodeficiency, which usually takes the form of sinopulmonary infections, oculocutaneous telangiectasia, X-ray hypersensitivity, and predisposition to lymphoid malignancies. A case of ataxia telangiectasia in a Yemeni boy with cerebellar atrophy, mottled pigmentations, scarring, recurrent sinopulmonary infections, and elevated alfa-fetoprotein. Ataxia telangiectasia should be suspected in the presence of progressive gait deterioration, recurrent sinupulmonary infections, inverted T4/T8 ratio, reduced B-cell count and ocular/oculo-cutaneous telangiectasia and abnormal cellular immunity. Elevated alpha-feto protein is a confirmatory test and should be done in all patients with AT.

Ataxia-Telangiectasia Complicated by Craniopharyngioma – A New Observation

Ataxia-telangiectasia is a rare autosomal recessive neurodegenerative disorder with high incidence of malignancy including leukemias, lymphomas, and solid tumors. Central nervous system tumors in ataxia telangiectasia include medulloblastomas and gliomas. We describe a 13-year-old girl with ataxia telangiectasia who developed craniopharyngioma and non-Hodgkin's lymphoma. To our knowledge, this is the first case of ataxia telangiectasia complicated by craniopharyngioma in the English literature.

Ataxia telangiectasia with long survival

A few patients with ataxia telangiectasia survive into the 3rd decade. In the central nervous system, dilated meningeal veins have been noted in a few cases but as a rule the vasculature in both brain and spinal cord appears normal. We present the case of the longest reported surviving patient with ataxia telangiectasia who died at the age of 34 years and showed numerous vascular malformations with gliosis and haemosiderin in the cerebral white matter and spinal cord. These are similar to the features described in three previously reported long surviving cases of ataxia telangiectasia. In addition, however, numerous corpora amylacea were present, a finding not previously described. Also presented is the magnetic resonance imaging (MRI) scan which was of diagnostic-value; there have been very few MRI scans recorded in ataxia telangiectasia. It showed lesions consistent with vascular malformations in cerebral white matter with surrounding abnormal tissue consistent with gliosis. Gross cerebellar atrophy was also demonstrated. It is significant that MRI scans 6 months apart at the age of 32 years showed progression of the lesions.

Chromosomal Radiosensitivity in G 2 -Phase Lymphocytes as an Indicator of Cancer Predisposition

Sanford et al. (Int. J. Radiat. Biol. 55, 963-981, 1989) have reported that G2-phase cells from many heritable cancer-prone conditions exhibit higher yields of X-ray-induced chromosome damage than those found in the majority of healthy controls. We have applied their protocol to lymphocytes of a group of control and cancer-prone individuals to see if we could confirm these observations. For control donors we observed higher aberration yields, different kinetics and more interexperiment variability than found by Sanford et al. These differences could not be attributed to unavoidable minor variations in procedures (e.g. serum batches, glassware washing methods), but the difference in X-ray qualities used in the two laboratories may have made a small contribution to the discrepancies. We attribute some of our experimental variability to the fact that, to varying extents in different experiments, centrifugation of cells prior to irradiation can slow down the progression of cells into metaphase and that cells can continue to repair during the harvesting procedure (centrifugation and hypotonic treatment). We have applied the assay to cases of ataxia telangiectasia (AT, homozygotes and heterozygotes), xeroderma pigmentosum (homozygotes and heterozygotes), familial adenomatous polyposis and the syndromes Li-Fraumeni, basal cell nevus, Down's and Fanconi's but have been unable to discriminate between these groups and controls except for AT homozygotes. By including a control sample in parallel with samples from cancer-prone groups we found a significant difference in mean aberration yields between controls and AT homozygotes and heterozygotes, but not for the other groups. Since technical features could explain the discrepancies between our laboratories, we have devised our own G2-phase assay which appears to be giving promising results.

ATAXIA TELANGIECTASIA GENE FOUND; MAY HAVE BROAD IMPLICATIONS.

Have you ever seen a case of ataxia telangiectasia (AT)? Neither have I. So why is the just-announced discovery of the gene for AT important? Because heterozygous carriers, who make up about 1% of the population, have a fivefold increased risk for breast …

Immunodeficiency as a model to study neuroimmune development, the case of ataxia telangiectasia

Immunodeficiency as a model to study neuroimmune development, the case of ataxia telangiectasia

12-O-tetradecanoylphorbol 13-acetate-inducible proteins are synthesized at an increased rate in Bloom syndrome fibroblasts.

A set of proteins, which in normal fibroblasts were barely, if at all, detectable, were synthesized at an increased rate in fibroblasts from patients with Bloom syndrome (BS). The same set of proteins was induced in normal human fibroblasts by treatment with 12-O-tetradecanoylphorbol 13-acetate (TPA). In BS cells, TPA caused a further 2-fold increase in the rate of synthesis. Production of these proteins was inhibited by the addition of fluocinolone acetonide to the culture medium. One of the proteins (XHF1) present at high levels in BS fibroblasts and in TPA-treated cells was also induced by irradiation with ultraviolet light. This protein was secreted into the culture medium. Most other TPA-inducible proteins were cytoplasmic. Among other human mutants prone to chromosome aberrations we found one of three tested cases of Fanconi anemia and one case of ataxia-telangiectasia that showed increased spontaneous rates of synthesis of the TPA-inducible proteins. In these cases, however, the induction by TPA was like that seen in healthy fibroblasts.

A Case of Ataxia-Telangiectasia with Dystonia

A Case of Ataxia-Telangiectasia with Dystonia

[Ataxia-telangiectasia. Report of 4 cases].

The clinical, immunologic and radiologic aspects of 4 cases of ataxia telangiectasia are reported. Comparing with a large revision of literature, the authors justify the publication of the report by the scarse occurrence of the disease and by its incidency in 3 brothers of one same family.

Etude de la transformation de lymphocytes in vitro dans le cas de deux sujets atteints d'ataxie-telangiectasie et recherche d'anomalies chromosomiques eventuelles

The lymphocytic transformation in vitro has been studied in 2 cases of ataxia-telangiectasia and compared to that of 2 controls. Significant difference was found between the two groups in the behavior of lymphocytes for two different times of culture. After 48 hrs culturing, important individual variability in RNA synthesis and lower per cent of cells in mitosis was found in the first group. After 120 hrs culturing less important DNA synthesis was found in the first group and about the same per cent of cells in mitosis. After 48 hrs cultures, cellular damage was found in the first group and after 120 hrs cultures, chromosome anomalies were found in the first group.

B and T lymphocytes in primary immunodeficiency disease in man.

B- and T-cell populations in 32 patients with different forms of primary immunodeficiency disease were studied. The B-cells in peripheral blood were investigated with respect to surface immunoglobulins by means of immunofluorescence. The T-cell function was studied utilizing quantitation of proliferative response to phytochemagglutinin (PHA)(1) and delayed allergy to various antigens. In 10 patients lymph node lymphocytes were also evaluated 11 male children with infantile x-linked agammaglobulinemia were divided into two subgroups. One did not show immunoglobulin spots on peripheral blood lymphocytes at all, the other contained a very low percentage of IgM- and occasionally IgA bearing lymphocytes. Eight patients with common variable immunodeficiency had moderately decreased percentages of peripheral blood and lymph node lymphocytes with surface immunoglobulins, but these patients lacked immunoglobulin secreting cells. Four cases of isolated IgA deficiency had normal or high percentages, and two cases of ataxia-telangiectasia had high percentages of lymphocytes with IgA in so called receptor distribution in both peripheral blood and lymph nodes. In three patients with infantile combined immunodeficiency that had been corrected by marrow transplantation, the percentages of Ig-bearing lymphocytes increased to normal or high levels together with establishment of functional T-cell population and ultimate secretion of serum immunoglobulins. One case of Di George syndrome reconstituted by fetal thymus transplant showed gradual decrease of B lymphocytes in circulation parallel to restoration of T-cell population.

Reversible Neutrophil Defect in Ataxia Telangiectasia

Ataxia telangiectasia is a complex syndrome characterized by cerebellar ataxia, oculocutaneous telangiectasias, and frequent sinopulmonary infections. The pathogenesis of this condition remains unknown, but the increased susceptibility to infections has been related to IgA and IgE deficiency, as well as to faulty cellular immunity. According to the W.H.O. classification of primary immunodeficient disorders, both B-cells (Bursal) and T-cells (Thymic) are defective in this syndrome. Recently, Feigin, et al. described a case of ataxia telangiectasia associated with granulocytopenia. We would like to report a case of ataxia telangiectasia where a reversible, apparently intrinsic, neutrophil defect was detected along with some of the immune defects that usually accompany this syndrome.

Abnormalities in synthesis of some subclasses of gamma-G in a family with two cases of ataxia telangiectasia.

Abnormalities in synthesis of some subclasses of gamma-G in a family with two cases of ataxia telangiectasia.

Ataxia-telangiectasia with absence of IgG

A case of ataxia-telangiectasia (Louis-Bar's Syndrome) is reported in a 8-year-old girl with ocular telangiectasia, ataxia and dystonia. She had few infections. There were clear radiological signs of cerebellar atrophy. The serum electrophoretic pattern showed a clear hypogammaglobulinaemia in her parents and one sister. The serum electrophoretic pattern of the patient showed absence of immunoglobulin G and an increase of the IgA and IgM precipitation bands. The clinical and immunological aspects of the A-T syndrome are discussed; in such cases previously reported the absence of IgG in serum is very rare; this finding suggests a possible relationship between the condition and the Swiss type of agammaglobulinaemia.

Abnormalities in Synthesis of some Subclasses of γG in a Family with Two Cases of Ataxia Telangiectasia

Abnormalities in Synthesis of some Subclasses of γG in a Family with Two Cases of Ataxia Telangiectasia

Pathological findings in three cases of ataxia-telangiectasia

Pathological findings in three cases of ataxia-telangiectasia