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Disorders of Upper Limb Movements in Ataxia-Telangiectasia  [PDF]
Aasef G. Shaikh, David S. Zee, Allen S. Mandir, Howard M. Lederman, Thomas O. Crawford
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0067042
Abstract: Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia. We quantitatively assessed the nature of upper-limb movement disorders in ataxia-telangiectasia. We used a three-axis accelerometer to assess the natural history and severity of abnormal upper-limb movements in 80 ataxia-telangiectasia and 19 healthy subjects. Recordings were made during goal-directed movements of upper limb (kinetic task), while arms were outstretched (postural task), and at rest. Almost all ataxia-telangiectasia subjects (79/80) had abnormal involuntary movements, such as rhythmic oscillations (tremor), slow drifts (dystonia or athetosis), and isolated rapid movements (dystonic jerks or myoclonus). All patients with involuntary movements had both kinetic and postural tremor, while 48 (61%) also had resting tremor. The tremor was present in transient episodes lasting several seconds during two-minute recording sessions of all three conditions. Percent time during which episodic tremor was present was greater for postural and kinetic tasks compared to rest. Resting tremor had higher frequency but smaller amplitude than postural and kinetic tremor. Rapid non-rhythmic movements were minimal during rest, but were triggered during sustained arm postures and goal directed arm movements suggesting they are best considered a form of dystonic jerks or action myoclonus. Advancing age did not correlate with the severity of involuntary limb movements. Abnormal upper-limb movements in ataxia-telangiectasia feature classic cerebellar impairment, but also suggest involvement of the network between the cerebellum and basal ganglia.
Ataxia telangiectasia and secondary diseases  [cached]
Türkan Pat?ro?lu,Hatice Eke Güng?r,Hüseyin Baz,Ekrem ünal
Turk Pediatri Ar?ivi , 2012,
Abstract: Aim: Ataxia telangiectasia is a rare autosomal recessive neurodegenerative disorder. In this retrospective study, it was aimed to evaluate immunological abnormalities and secondary diseases during the course of the patients with AT.Material and Method: Twenty patients diagnosed as ataxia telangiectasia were retrospectively evaluated in this study. The initial complaints, age at diagnosis, consanguinity of the parents, similar disease history or death of the siblings, the distribution of lymphocyte subset, level of immunoglobulin and the results of thorax tomography, pathological examination, thyroid hormone and auto-antibody related to the secondary disease, clinical courses were analyzed.Results: The most frequent complaint at admission was unstable gait and repeated sinopulmonary infections. The most common findings were low immunoglobulin A levels and low number of T helper lymphocytes. Three of the patients developed bronchiectasis and two of the patients developed Hashimoto’s thyroiditis, whereas two patients who suffered from Hodgkin’s lymphoma died due to infections subsequently. Conclusions: Several secondary clinical situations may be associated with ataxia telangiectasia. Clinical suspicion of this entity allows an early diagnosis and treatment of complications. Genetic counseling is crucial in the prevention of this disease which has no definitive treatment primarily in communities with a high prevalence of consanguineous marriages. (Turk Arch Ped 2012; 47: 38-42)
Ataxia telangiectasia: Family management  [cached]
Seshachalam Arun,Cyriac Sanju,Reddy Neelesh,Gnana Sagar
Indian Journal of Human Genetics , 2010,
Abstract: Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. Both A-T homozygote and heterozygote are at increased risk of developing malignancy. We report a family in which three generations were affected by this disorder. Our index case is a 12-year-old female child, born of second degree consanguineous marriage diagnosed to have ataxia telangiectasia at the age of four years, now presented with fever and neck swelling of one month duration. Family history suggestive of ataxia telangiectasia in maternal uncle and younger sibling was present. History of premature coronary artery disease and death in paternal grandfather was present. On evaluation, child was diagnosed to have Alk negative anaplastic large T cell lymphoma. Management included genetic counseling, examination of all the family members, identification of A-T homozygote and providing appropriate care, regular surveillance of the heterozygote for malignancy.
Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia  [PDF]
Hind Serhane, Nisserine Louhab, Hafsa Sajiai, Selma Aitbatahar, Lamyae Amro
Case Reports in Clinical Medicine (CRCM) , 2015, DOI: 10.4236/crcm.2015.45037
Ataxia Telangiectasia (AT) is a rare autosomal recessive multisystem disease. The diagnosis is often made on a clinical triad that combines neurological signs dominated by a progressive cerebellar ataxia, oculocutaneous signs (telangiectasia, coffee stain milk), immunodeficiency (humoral and cellular) with sinopulmonary infections and elevated alphaphetoprotein. The diagnosis of AT is usually early, however, some forms may be revealed late. We reported a case of a 19-year-old patient, admitted for severe pneumonia with Klebsiella Pneumonia. In its history, it was found a notion of recurrent respiratory infections and bronchiectasis. In its clinical examination, it had been discovered cerebellar ataxia and occulocutaneous telangiectasia. The determination of plasmatic alphafoetoprotein was elevated, and the search of immunodeficiency showed a mixed deficit (humoral and cellular) suggesting the diagnosis of AT.
Experimental antioxidant therapy in ataxia telangiectasia
Ramune Reliene,Robert H. Schiestl
Clinical Medicine : Oncology , 2008,
Abstract: Ataxia telangiectasia (AT) is a rare genetic disorder characterized by immunodeficiency, early onset neurological degeneration, hypersensitivity to ionizing radiation and a high incidence of lymphoid cancers. The disease results from bi-allelic mutations in the AT mutated (ATM) gene involved in cell cycle checkpoint control and repair of DNA double-strand breaks. Evidence has been accumulating that oxidative stress is associated with AT and may be involved in the pathogenesis of the disease. This led to a hypothesis that antioxidant therapy may mitigate the symptoms of AT, especially neurological degeneration and tumorigenesis. Consequently, several studies examined the effect of antioxidants in Atm deficient mice used as an animal model of AT. N-acetyl-L-cysteine (NAC), EUK-189, tempol and 5-carboxy-1,1,3,3-tetramethylisoindolin- 2-yloxyl (CTMIO) have been tested for their chemopreventive properties and had some beneficial effects. In addition to antioxidants, cancer therapeutic agent dexamethasone was examined for cancer prevention in Atm deficient mice. Of the tested antioxidants, only NAC has wide clinical applications due to safety and efficacy and is available as an over-the-counter dietary supplement. In this article, we review chemoprevention studies in Atm deficient mice and, in more detail, our findings on the effect of NAC. The short-tem study showed that NAC suppressed genome rearrangements linked to cancer. The long-term study demonstrated that NAC reduced both the incidence and multiplicity of lymphoma.
Nonalcoholic Steatohepatitis in a Patient with Ataxia-Telangiectasia  [PDF]
Trinidad Caballero,Mercedes Caba-Molina,Javier Salmerón,Mercedes Gómez-Morales
Case Reports in Hepatology , 2014, DOI: 10.1155/2014/761250
Abstract: Ataxia-telangiectasia (A-T) is a rare disease characterized by neurodegenerative alterations, telangiectasia, primary immunodeficiency, extreme sensitivity to radiation, and susceptibility to neoplasms. A-T patients have inactivation of ataxia-telangiectasia-mutated (ATM) protein, which controls DNA double-strand break repair and is involved in oxidative stress response, among other functions; dysfunctional control of reactive oxygen species may be responsible for many of the clinical manifestations of this disease. To the best of our knowledge, hepatic lesions of steatohepatitis have not previously been reported in A-T patients. The present study reports the case of a 22-year-old man diagnosed with A-T at the age of 6 years who was referred to our Digestive Disease Unit with a three-year history of hyperlipidemia and liver test alterations. Core liver biopsy showed similar lesions to those observed in nonalcoholic steatohepatitis. Immunohistochemical staining disclosed the absence of ATM protein in hepatocyte nuclei. We suggest that the liver injury may be mainly attributable to the oxidative stress associated with ATM protein deficiency, although other factors may have made a contribution. We propose the inclusion of A-T among the causes of nonalcoholic steatohepatitis, which may respond to antioxidant therapy. 1. Introduction Ataxia-telangiectasia (A-T) is a rare autosomal recessive hereditary neurodegenerative and progressive disease caused by mutations in the ataxia-telangiectasia-mutated (ATM) gene that produce the absence or inactivation of ATM protein kinase. Clinical manifestations of A-T include early-onset neurological alterations (cerebellar ataxia caused by Purkinje and granule cell degeneration), late-onset oculocutaneous telangiectasias, early aging, sterility, hypersensitivity to ionizing radiation, immunodeficiency, and susceptibility to neoplasms [1, 2], especially leukemia, lymphomas, and breast cancer [3, 4]. Patients with A-T can also have impaired cellular and humoral immunity (IgA, IgE, or IgG2 immunodeficiency) and elevated serum alpha-fetoprotein (AFP), which can be useful for the diagnosis [4, 5]. ATM protein participates in double-strand-break repair mechanisms and can be activated by exogenous and endogen oxidative stress; ATM activation increases antioxidant levels and induces DNA oxidative damage repair [6]. Along with p53, ATM plays an important role in maintaining genomic integrity [5]. Many of the clinical alterations observed in A-T patients may be related to the dysfunctional control of reactive oxygen species (ROS)
Ataxia Telangiectasia: A Report of 24 Cases
AH Farhoudi,GH Ghorbani,Y Shafaghati
Iranian Journal of Pediatrics , 1985,
Abstract: Ataxia Telangiectasia is an inherited neuro-immunologic disorder with an incidence of 1 in 30,000 live births. The affected children are prone to infections, mostly sinobronchitis, probably due to IgA deficiency and cell mediated immune defects as well. Reviewing the medical records of 24 patients with Ataxia Telangiectasia during the years 1975 through 1985 admitted to the children's hospital Markaz Tebbi in Tehran, we have noted following results: The mean age of the patients was 9 (Range 4 to 14) years. Parents of 16 patients (67%) were consanguineous. The sex ratio was 1:1. All 24 patients showed cerebellar Ataxia and Telangiectasia, 16 (67%) were mental retarded, 18 (75%) have had sinobronchitis or other recurring infections. 15 patients were tested for alpha-1-fetoprotein, of whom only 1 patient showed a positive test. This seems to be due to technical reasons as RID was applied for these tests, which is not sensitive enough to detect small amounts of the protein. It is planned to repeat the test with RIA or ELISA in future. Liver enzymes and GTT were not significantly abnormal. 16 patients (73%) had IgA deficiency, 11 of 22 tested patients revealed normal serum IgG and 1 patient showed low IgE levels. Complement components C3, C4 and CH50 in 9 of 10 tested patients was normal. T-cells as E-rosette in all of 14 tested patients (78.5%) have been found to be decreased and B-cells in 8 of 19 patients were low normal.
A. Farhoudi,M. Movahedi,R Yazdani,M. Moin
Iranian Journal Of Allergy, Asthma and Immunology , 2000,
Abstract: Ataxia-telangiectasia (AT) is an autosomal recessive disease characterized by telangiectasia, progressive ataxia, sinopulmonary infection, hypersensitivity to ionizing radiation, and a combined immunodeficiency, usually consisting of selective IgA and IgG, deficiencies, cutaneous anergy, and often depressed but not absent in vitro lymphocyte responsiveness. Reviewing the medical records of 50 patients with AT during 1975 through 1998 admitted to our center, we have noted the following results: the mean age of the patients was 8.3 (range 3 to 14) years, parents of 33 patients were consanguinous, and the sex ratio was 6:5, occuring more in boys than in girls. All 50 patients showed cerebellar ataxia and telangiectasia, 67% were mentally retarded, and 75% have had sinobronchitis and pulmonary infections. 36 patients were tested for ccj-fetoprotein, all of whom showed a positive test. Liver enzymes and plasma glucose levels were not signifi cantly abnormal. 24 patients had IgA deficiency, and 8 patients had IgG2 defi ciency and 15 patients showed low IgE levels. All patients were tested for T-cells which were abnormal in 17 patients and 20 patients were tested for B-cells, which were abnormal in 18 patients. One patient had growth hormone deficiency. 17 patients had malignancies.
Aspectos diagnósticos, moleculares y terapéuticos de la ataxia telangiectasia Diagnostic, mollecular and therapeutic aspects of ataxia telangiectasia
Vianed Marsán Suárez,Lázaro O del Valle Pérez,Miriam Sánchez Segura,Consuelo Macías Abraham
Revista Cubana de Hematolog?-a, Inmunolog?-a y Hemoterapia , 2003,
Abstract: La ataxia telangiectasia es una enfermedad multisistémica causada por mutaciones en el gen de la ataxia telangiectasia mutado (ATM), localizado en el locus 11 q22-23, que dan lugar a deficiencias en la expresión de la proteína de la ataxia telangiectasia mutada (ATM). Se actualizan los criterios diagnósticos, las enfermedades con las cuales debe realizarse el diagnóstico diferencial, los mecanismos moleculares involucrados en la fisiopatogenia de la enfermedad y finalmente, las terapias empleadas y en vías de experimentación The ataxia telangiectasia is a multisystemic disease caused by mutations in the mutated gene of the ataxia telangectasia (MAT) , located in the locus 11 q22-23 that brings about deficiencies in the expression of the protein of the mutated ataxia telangectasia (MAT). The diagnostic criteria, the diseases with which the differential diagnosis should be made, the molecular mechanisms involved in the physiopathogeny of the disease and, finally, the therapies used and those under experimental stage, are updated
PKB/Akt media la radio sensibilidad asociada a Ataxia Telangiectasia
Guinea Viniegra,J.; Martínez,N.; Aceves Luquero,C. I.; Galán Moya,E.; Cruz,M. A. de la; Callejas Valera,J. L.; Arraiga Aragón,A.; Ramírez-Castillejo,C.; Villas Sánchez,M. V.; Rojas,J. M.; Sánchez-Prieto,R.;
Oncología (Barcelona) , 2005, DOI: 10.4321/S0378-48352005000700004
Abstract: the gene mutated in ataxia telangiectasia (atm) has been implicated in several functions such as cell cycle, response to dna damage, and insulin. curiously, the pkb/akt-mediated signaling route is related to the same cellular responses. we show in this work that atm is a major determinant of full pkb/akt activation in response to insulin or g-radiation. this conclusion was inferred from the results obtained in transient transfection assays using exogenous pkb/akt and atm in cos cells, and also in cell lines derived from ataxia telangiectasia patients or ko mice. our study proposes new clues to understand the radiosensitivity associated to ataxia telangiectasia and supports a critical role for pkb/akt in the cellular response to ionizing radiation.
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