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1.
Cancer Med ; 13(14): e70049, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39056567

ABSTRACT

BACKGROUND/OBJECTIVES: Ataxia telangiectasia (A-T) is an inherited multisystem disorder with increased sensitivity to ionising radiation and elevated cancer risk. Although other cancer predisposition syndromes have established cancer screening protocols, evidence-based guidelines for cancer screening in A-T are lacking. This study sought to assess feasibility of a cancer screening protocol based on whole-body MRI (WB-MRI) in children and young people with A-T. DESIGN/METHODS: Children and young people with A-T were invited to undergo a one-off non-sedated 3-Tesla WB-MRI. Completion rate of WB-MRI was recorded and diagnostic image quality assessed by two experienced radiologists, with pre-specified success thresholds for scan completion of >50% participants and image quality between acceptable to excellent in 65% participants. Positive imaging findings were classified according to the ONCO-RADS system. Post-participation interviews were performed with recruited families to assess the experience of participating and feelings about waiting for, and communication of, the findings of the scan. RESULTS: Forty-six children and young people with A-T were identified, of which 36 were eligible to participate, 18 were recruited and 16 underwent WB-MRI. Nineteen parents participated in interviews. Fifteen participants (83%) completed the full WB-MRI scan protocol. The pre-specified image quality criterion was achieved with diagnostic images obtained in at least 93% of each MRI sequence. Non-malignant scan findings were present in 4 (25%) participants. Six themes were identified from the interviews: (1) anxiety is a familiar feeling, (2) the process of MRI scanning is challenging for some children and families, (3) preparation is essential to reduce stress, (4) WB-MRI provides the reassurance about the physical health that families need, (5) WB-MRI experience turned out to be a positive experience and (6) WB-MRI allows families to be proactive. CONCLUSION: This study shows that WB-MRI for cancer screening is feasible and well-accepted by children and young people with A-T and their families.


Subject(s)
Ataxia Telangiectasia , Early Detection of Cancer , Feasibility Studies , Magnetic Resonance Imaging , Whole Body Imaging , Humans , Ataxia Telangiectasia/diagnostic imaging , Child , Female , Male , Adolescent , Magnetic Resonance Imaging/methods , Cross-Sectional Studies , Early Detection of Cancer/methods , Early Detection of Cancer/psychology , Whole Body Imaging/methods , Young Adult , Child, Preschool , Neoplasms/diagnostic imaging , Neoplasms/psychology , Adult
2.
Can J Gastroenterol Hepatol ; 2023: 2877350, 2023.
Article in English | MEDLINE | ID: mdl-36941982

ABSTRACT

Background: Ataxia-telangiectasia (A-T) is a rare autosomal-recessive multisystem disorder characterized by pronounced cerebellar ataxia, telangiectasia, cancer predisposition, and altered body composition. Liver diseases with steatosis, fibrosis, and hepatocellular carcinoma are frequent findings in older patients but sensitive noninvasive diagnostic tools are lacking. Objectives: To determine the sensitivity of transient elastography (TE) as a screening tool for early hepatic tissue changes and serum biomarkers for liver disease. Methods: Thirty-one A-T patients aged 2 to 25 years were examined prospectively from 2016-2018 by TE. In addition, we evaluated the diagnostic performance of liver biomarkers for steatosis and necroinflammatory activity (SteatoTest and ActiTest, Biopredictive, Paris) compared to TE. For calculation and comparison, patients were divided into two groups (<12, >12 years of age). Results: TE revealed steatosis in 2/21 (10%) younger patients compared to 9/10 (90%) older patients. Fibrosis was present in 3/10 (30%) older patients as assessed by TE. We found a significant correlation of steatosis with SteatoTest, alpha-fetoprotein (AFP), HbA1c, and triglycerides. Liver stiffness correlated significantly with SteatoTest, ActiTest, HbA1c, and triglycerides. Conclusion: Liver disease is a common finding in older A-T patients. TE is an objective measure to detect early stages of steatosis and fibrosis. SteatoTest and ActiTest are a good diagnostic assessment for steatosis and necroinflammatory activity in patients with A-T and confirmed the TE results.


Subject(s)
Ataxia Telangiectasia , Elasticity Imaging Techniques , Fatty Liver , Liver Neoplasms , Non-alcoholic Fatty Liver Disease , Child , Humans , Ataxia Telangiectasia/complications , Ataxia Telangiectasia/diagnostic imaging , Ataxia Telangiectasia/pathology , Biomarkers , Biopsy , Elasticity Imaging Techniques/methods , Fatty Liver/diagnosis , Fibrosis , Glycated Hemoglobin , Liver/diagnostic imaging , Liver/pathology , Liver Cirrhosis/diagnostic imaging , Liver Cirrhosis/etiology , Liver Neoplasms/pathology , Non-alcoholic Fatty Liver Disease/pathology , Triglycerides
3.
AJNR Am J Neuroradiol ; 42(6): 1144-1150, 2021 06.
Article in English | MEDLINE | ID: mdl-33832956

ABSTRACT

BACKGROUND AND PURPOSE: SWI hypointense cerebral lesions have been reported in adults with the inherited cerebellar neurodegenerative disorder ataxia telangiectasia. This study aims to establish the prevalence, age-dependency, and spatial distribution of these lesions in children and young people with ataxia telangiectasia. MATERIALS AND METHODS: Participants with classic ataxia telangiectasia and matched controls underwent SWI acquisition at 3T at 1 or 2 time points. SWI hypointense lesions were manually labeled according to the Microbleed Anatomical Rating Scale. Differences in prevalence of lesion number between groups with ataxia telangiectasia and without ataxia telangiectasia were tested with the Fisher exact test, and differences in age between participants with ataxia telangiectasia with and without lesions were tested using independent samples Mann-Whitney U test. The relationship between age and lesion number was modeled as an exponential function. RESULTS: Analyzable SWI datasets from 17 participants with ataxia telangiectasia (with median age at first scan of 12.4 years; range, 4.6-20.2 years; 8 [47%] were female) and 22 matched healthy controls showed prevalence of SWI hypointense lesions in 41% of participants with ataxia telangiectasia and 0% in controls (P = .001, Fisher exact test). Lesions were exclusively supratentorial and predominantly lobar. Participants with ataxia telangiectasia with SWI hypointense lesions were older than those without (median age 5.2 years versus 9.3 years, U = 10.5, P = .014). An exponential curve described the relationship between age and lesion number (R 2 = 0.67). CONCLUSIONS: SWI hypointense lesions are common in children and young people with ataxia telangiectasia, accumulating from 12 years of age onward. In contrast to cerebellar-dominant neurodegeneration in ataxia telangiectasia, SWI hypointense lesions were exclusively supratentorial. Further investigation is needed to establish the clinical relevance of these imaging-detected lesions.


Subject(s)
Ataxia Telangiectasia , Ataxia Telangiectasia/diagnostic imaging , Brain/diagnostic imaging , Child , Child, Preschool , Female , Humans , Magnetic Resonance Imaging , Male
4.
Cerebellum ; 20(1): 31-40, 2021 Feb.
Article in English | MEDLINE | ID: mdl-32815118

ABSTRACT

Ataxia telangiectasia (A-T) is a devastating multi-system disorder characterized by progressive cerebellar ataxia and immunodeficiency. The neurological decline may be caused by multiple factors of which ongoing inflammation and oxidative stress may play a dominant role. The objective of the present investigation was to determine cerebrospinal fluid (CSF) proteins and possible low-grade inflammation and its relation to age and neurological deterioration. In the present study, we investigated 15 patients with A-T from 2 to 16 years. Our investigation included blood and CSF tests, clinical neurological examination, A-T score, and MRI findings. The albumin ratio (AR) was analyzed to determine the blood-brain-barrier function. In addition, inflammatory cytokines (IL-1α, IL-6, IL-8, IL-12 p40, IL-17A, IFN-γ, TNF-α) were measured by the multiplex cytometric bead array. We compared the results with those from an age-matched control group. Three of the A-T patients were analyzed separately (one after resection of a cerebral meningioma, one after radiation and chemotherapy due to leukemia, one after stem cell transplantation). Patient had significantly more moderate and severe side effects due to CSF puncture (vomiting, headache, need for anti-emetic drugs) compared with healthy controls. Total protein, albumin, and the AR increased with age indicating a disturbed blood barrier function in older children. There were no differences for cytokines in serum and CSF with the exception of IL-2, which was significantly higher in controls in serum. The AR is significantly altered in A-T patients, but low-grade inflammation is not detectable in serum and CSF.


Subject(s)
Ataxia Telangiectasia/cerebrospinal fluid , Adolescent , Aging , Ataxia Telangiectasia/diagnostic imaging , Biomarkers/cerebrospinal fluid , Blood-Brain Barrier/diagnostic imaging , Blood-Brain Barrier/pathology , Child , Child, Preschool , Cytokines/blood , Female , Humans , Interleukin-17/cerebrospinal fluid , Interleukin-2/cerebrospinal fluid , Magnetic Resonance Imaging , Male , Neurologic Examination , Serum Albumin/analysis , Spinal Puncture/adverse effects
5.
Neuroimage Clin ; 25: 102110, 2020.
Article in English | MEDLINE | ID: mdl-31855653

ABSTRACT

BACKGROUND: Ataxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be important for determining timing and impact of therapeutic interventions. PURPOSE: To test the hypothesis that abnormalities of cerebellar structure, physiology and cellular health occur in childhood A-T and correlate with neurological disability, we performed multiparametric cerebellar MRI and establish associations with disease status in childhood A-T. METHODS: Prospective cross-sectional observational study. 22 young people (9 females / 13 males, age 6.6-17.8 years) with A-T and 24 matched healthy controls underwent 3-Tesla MRI with volumetric, diffusion and proton spectroscopic acquisitions. Participants with A-T underwent structured neurological assessment, and expression / activity of ataxia-telangiectasia mutated (ATM) kinase were recorded. RESULTS: Ataxia-telangiectasia participants had cerebellar volume loss (fractional total cerebellar volume: 5.3% vs 8.7%, P < 0.0005, fractional 4th ventricular volumes: 0.19% vs 0.13%, P < 0.0005), that progressed with age (fractional cerebellar volumes, r = -0.66, P = 0.001), different from the control group (t = -4.88, P < 0.0005). The relationship between cerebellar volume and age was similar for A-T participants with absent ATM kinase production and those producing non-functioning ATM kinase. Markers of cerebellar white matter injury were elevated in ataxia-telangiectasia vs controls (apparent diffusion coefficient: 0.89 × 10-3 mm2 s-1 vs 0.69 × 10-3 mm2 s-1, p < 0.0005) and correlated (age-corrected) with neurometabolite ratios indicating impaired neuronal viability (N-acetylaspartate:creatine r = -0.70, P < 0.001); gliosis (inositol:creatine r = 0.50, P = 0.018; combined glutamine/glutamate:creatine r = -0.55, P = 0.008) and increased myelin turnover (choline:creatine r = 0.68, P < 0.001). Fractional 4th ventricular volume was the only variable retained in the regression model predicting neurological function (adjusted r2 = 0.29, P = 0.015). CONCLUSIONS: Quantitative MRI demonstrates cerebellar abnormalities in children with A-T, providing non-invasive measures of progressive cerebellar injury and markers reflecting neurological status. These MRI metrics may be of value in determining timing and impact of interventions aimed at altering the natural history of A-T.


Subject(s)
Ataxia Telangiectasia , Cerebellum , Neuroimaging/methods , White Matter , Adolescent , Ataxia Telangiectasia/diagnostic imaging , Ataxia Telangiectasia/metabolism , Ataxia Telangiectasia/pathology , Ataxia Telangiectasia/physiopathology , Cerebellum/diagnostic imaging , Cerebellum/metabolism , Cerebellum/pathology , Cerebellum/physiopathology , Child , Cross-Sectional Studies , Female , Humans , Magnetic Resonance Imaging/methods , Magnetic Resonance Spectroscopy/methods , Male , Multimodal Imaging , Phenotype , Prospective Studies , White Matter/diagnostic imaging , White Matter/metabolism , White Matter/pathology
6.
Sci Rep ; 7(1): 15284, 2017 11 10.
Article in English | MEDLINE | ID: mdl-29127364

ABSTRACT

Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients. Specific distinctive alpha-fetoprotein thresholds were determined for AOA1 (7-15 µg/L), AOA2 (15-65 µg/L) and AT (>65 µg/L). Early age onset, severe walking disability, movement disorders, sensori-motor neuropathy and cerebellar atrophy were all shared. In conclusion, alpha-fetoprotein level seems to permit a distinction while video-oculography does not and therefore is not mandatory, even if an appropriate oculomotor examination remains crucial. Our findings are that AOA1, AOA2 and AT form a particular group characterized by ataxia with complex oculomotor disturbances and elevated AFP for which the final diagnosis is relying on genetic analysis. These findings could guide genetic analysis, assist reverse-phenotyping and provide background for the interpretation of the numerous variants of unknown significance provided by next-generation sequencing.


Subject(s)
Apraxias/congenital , Ataxia Telangiectasia/blood , Ataxia Telangiectasia/diagnostic imaging , Cogan Syndrome/blood , Cogan Syndrome/diagnostic imaging , Multimodal Imaging , alpha-Fetoproteins/metabolism , Adolescent , Adult , Apraxias/blood , Apraxias/diagnostic imaging , Apraxias/genetics , Ataxia Telangiectasia/genetics , Child , Child, Preschool , Cogan Syndrome/genetics , Female , Humans , Male , Middle Aged , alpha-Fetoproteins/genetics
7.
J Neurol Sci ; 371: 48-53, 2016 Dec 15.
Article in English | MEDLINE | ID: mdl-27871447

ABSTRACT

We report the case of a 6-year-old female patient with Ataxia Telangiectasia, an extremely rare condition, who developed in addition a left cerebellar astrocytoma and a right cerebellar infarction, considered as two independent events. Children with AT have an increased risk of developing cancer, but only few cases of glioma are reported and, at our knowledge, no other case of unrelated cerebellar glioma and cerebellar infarction in with the same AT patient have been described. The molecular analysis of ATM (Ataxia Telangiectasia Mutated) gene showed that the patient is compound heterozygote for two previously unreported mutations: c.3291delC (p.Phe1097fs) at exon 25 and c.8198A>C (p.Gln2733Pro) at exon 58. The role of the identified ATM gene mutations in the pathogenesis of Ataxia Telangiectasia and the coexisting cerebellar disorders is discussed.


Subject(s)
Astrocytoma/genetics , Ataxia Telangiectasia Mutated Proteins/genetics , Ataxia Telangiectasia/genetics , Brain Ischemia/genetics , Cerebellar Neoplasms/genetics , Glioma/genetics , Astrocytoma/complications , Astrocytoma/diagnostic imaging , Astrocytoma/surgery , Ataxia Telangiectasia/complications , Ataxia Telangiectasia/diagnostic imaging , Brain/diagnostic imaging , Brain Ischemia/complications , Brain Ischemia/diagnostic imaging , Cell Line , Cerebellar Neoplasms/complications , Cerebellar Neoplasms/diagnostic imaging , Cerebellar Neoplasms/surgery , Child , Female , Glioma/diagnostic imaging , Glioma/surgery , Heterozygote , Humans , Mutation, Missense
10.
Invest Ophthalmol Vis Sci ; 49(9): 3806-11, 2008 Sep.
Article in English | MEDLINE | ID: mdl-18502988

ABSTRACT

PURPOSE: To investigate the prevalence of sequence variants in the ATM gene and to determine the frequency of major age-related macular degeneration (AMD)-associated variants in CFH, CFB, and 10q26 loci in patients with idiopathic perifoveal telangiectasia (IPT). METHODS: Thirty patients with diagnoses of IPT underwent standard ophthalmologic evaluation that included visual acuity testing, fundus photography, and fluorescein angiography. DNA was screened for variations in the ATM gene by a combination of denaturing high-performance liquid chromatography and direct sequencing. Major AMD-associated alleles in CFH, CFB, and 10q loci were screened by PCR-restriction fragment-length polymorphism. RESULTS: Nineteen female and 11 male patients (average age, 59 years) with a median visual acuity of 20/50 were evaluated. Six patients were of Asian-Indian origin, one was Hispanic, and 23 were of European-American ancestry. Nine of 30 (30%) patients had diabetes mellitus, 18 of 30 (60%) patients had hypertension, and 12 of 30 (40%) patients had a history of smoking. Screening of the ATM gene revealed a null allele in 2 of 23 (8.7%) patients of European ancestry, previously disease-associated missense alleles in 4 of 23 (17.4%) patients, and common missense alleles in 7 of 23 (30.4%) patients. No variants were identified in the ATM gene in patients of Asian or Hispanic origin. Frequencies of major AMD-associated alleles in CFH, CFB, and 10q loci in the IPT cohort were similar to those in the ethnically matched general population. CONCLUSIONS: At least 26%, and maybe up to 57%, of IPT patients of European-American descent carried possibly disease-associated ATM alleles. Vascular risk factors such as hypertension, diabetes, and smoking may be associated with the pathogenesis of the disease.


Subject(s)
Ataxia Telangiectasia/genetics , Cell Cycle Proteins/genetics , DNA-Binding Proteins/genetics , Genetic Variation , Protein Serine-Threonine Kinases/genetics , Tumor Suppressor Proteins/genetics , Adult , Aged , Ataxia Telangiectasia/diagnostic imaging , Ataxia Telangiectasia/pathology , Ataxia Telangiectasia Mutated Proteins , Female , Fovea Centralis/diagnostic imaging , Fovea Centralis/pathology , Humans , Macula Lutea/diagnostic imaging , Macula Lutea/pathology , Male , Middle Aged , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Radiography , Visual Acuity
11.
J Neurol Sci ; 241(1-2): 1-6, 2006 Feb 15.
Article in English | MEDLINE | ID: mdl-16380133

ABSTRACT

Ataxia telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, elevated alpha-fetoprotein level, chromosomal instability, predisposition to cancer, and radiation sensitivity. Although a lot of mutations in the ATM gene have been described, there is still no report about ATM mutations in Chinese population. Using a molecular approach, we screened for ATM mutations in two patients from two unrelated Chinese families. 100 normal controls were analyzed to exclude possibility of polymorphism. Two novel mutations in the ATM gene were identified. The first one is a novel, homozygous, 1346G>C (Gly449Ala) missense mutation. The second one is a compound heterozygous mutation, which consists of a novel, 610G>T (Gly204Stop) nonsense mutation, combined with a previously reported, 6679C>T (Arg2227Cys) missense mutation. The transversions 1346G>C (Gly449Ala) and 610G>T (Gly204Stop) are not localized either in the conserved PI-3 kinase domain or in the other domains of the ATM protein. The phenotypic features were characterized by progressive cerebellar ataxia, ocular telangiectasia, elevated alpha-fetoprotein level, immunodeficiency (agammaglo-bulinemia and T-cell defect), and rearrangements of chromosomes 7 and 14; brain MRI showed cerebellar atrophy, brain SPECT showed cerebellar regional cerebral blood flow (rCBF) hypoperfusion. To our knowledge, this is the first report of ATM mutations in Mainland China, in which the transversions 1346G>C (Gly449Ala) and 610G>T (Gly204Stop) are two novel, disease-causing mutations.


Subject(s)
Ataxia Telangiectasia/genetics , Cell Cycle Proteins/genetics , DNA-Binding Proteins/genetics , Mutation , Protein Serine-Threonine Kinases/genetics , Tumor Suppressor Proteins/genetics , Adolescent , Alanine/genetics , Asian People , Ataxia Telangiectasia/diagnostic imaging , Ataxia Telangiectasia/pathology , Ataxia Telangiectasia/physiopathology , Ataxia Telangiectasia Mutated Proteins , DNA Mutational Analysis/methods , Female , Glycine/genetics , Humans , Magnetic Resonance Imaging/methods , Male , Tomography, Emission-Computed, Single-Photon/methods
12.
Pediatr Pulmonol ; 33(5): 399-403, 2002 May.
Article in English | MEDLINE | ID: mdl-11948987

ABSTRACT

Ataxia telangiectasia (AT) homozygotes have an increased risk for development of Hodgkin's disease (HD). Parenchymal lung involvement is not uncommon in HD; however, cavitary pulmonary lesions are quite unusual. We report on 3 cases of AT with HD who had mediastinal disease and parenchymal pulmonary involvement with cavitation. Of 6 AT patients in our HD series, 3 developed pulmonary cavities. The patients displayed pulmonary infiltration, cavitation in the lung parenchyma, and mediastinal enlarged lymph nodes on both plain chest X-rays and thoracic computed tomographies. No infectious etiologies were established for the pulmonary findings. Histopathological examination of open lung and mediastinal biopsies revealed HD, and all patients received multiagent chemotherapies. The outcome was fatal in all 3 patients. Respiratory infections are the principle cause for morbidity and mortality in AT patients. Reports on cavitating pulmonary lesions in HD are quite rare. Furthermore, data regarding the patterns of pulmonary involvement in AT patients with or without HD are lacking. The increased incidence of malignancies in AT patients may relate to immunodeficiency and to the chromosomal alterations identified.


Subject(s)
Ataxia Telangiectasia/diagnostic imaging , Hodgkin Disease/diagnostic imaging , Lung Diseases/diagnostic imaging , Lung/diagnostic imaging , Lung/pathology , Mediastinal Diseases/diagnostic imaging , Ataxia Telangiectasia/complications , Child , Child, Preschool , Female , Hodgkin Disease/complications , Humans , Lung Diseases/pathology , Male , Mediastinal Diseases/pathology , Tomography, X-Ray Computed
13.
J Comput Assist Tomogr ; 18(5): 724-7, 1994.
Article in English | MEDLINE | ID: mdl-8089319

ABSTRACT

OBJECTIVE: The aim of our study was to describe the neuroradiologic features of 12 patients with ataxia-telangiectasia (A-T), a degenerative multisystemic autosomal recessive hereditary disorder with onset in childhood. Clinical features include cerebellar ataxia, oculocutaneous telangiectasias, and recurrent bronchopulmonary infections. Patients present varying states of immunodeficiency and a high incidence of neoplasms. Chromosomal instability with a rearrangement of chromosomes 7 and 14 is always present. MATERIALS AND METHODS: We describe the neuroradiological findings (10 MR and 2 CT) in 12 subjects: 11 with A-T and 1 heterozygote parent. RESULTS: The images revealed a diffuse cerebellar atrophy, with marked involvement of the vermis and unusual decreased thickness of the superior cortex of the cerebellar hemispheres. Hypoplasia of the inferior vermis and a large cisterna magna were also frequent signs. CONCLUSION: Magnetic resonance is the technique of choice in this type of disorder since it permits better visualization of the posterior fossa structures.


Subject(s)
Ataxia Telangiectasia/diagnostic imaging , Ataxia Telangiectasia/diagnosis , Brain/diagnostic imaging , Brain/pathology , Magnetic Resonance Imaging , Tomography, X-Ray Computed , Adolescent , Adult , Ataxia Telangiectasia/pathology , Atrophy , Cerebellar Ataxia/pathology , Cerebellum/diagnostic imaging , Cerebellum/pathology , Cerebral Ventricles/pathology , Child , Child, Preschool , Dilatation, Pathologic/diagnostic imaging , Dilatation, Pathologic/pathology , Double-Blind Method , Eye Diseases/pathology , Female , Humans , Lung Diseases/microbiology , Male , Skin Diseases, Vascular/pathology
14.
Clin Neurol Neurosurg ; 90(3): 279-81, 1988.
Article in English | MEDLINE | ID: mdl-2461822

ABSTRACT

In general ataxia telangiectasia is a disease of childhood leading to severe ataxia in the first decade and death in adolescence. We present a brother and a sister with the characteristic features of ataxia telangiectasia at the age of 43 and 44. They are still in reasonable good health, despite their relative old age. This unusual manifestation of ataxia telangiectasia will be discussed with emphasis on clinical and genetic aspects.


Subject(s)
Ataxia Telangiectasia/genetics , Adult , Ataxia Telangiectasia/complications , Ataxia Telangiectasia/diagnostic imaging , Brain Diseases/diagnostic imaging , Brain Diseases/etiology , Calcinosis/diagnostic imaging , Calcinosis/etiology , Diabetes Mellitus/etiology , Female , Humans , Male , Peripheral Nervous System Diseases/etiology , Tomography, X-Ray Computed , alpha-Fetoproteins/blood
15.
Radiol Clin North Am ; 22(3): 741-56, 1984 Sep.
Article in English | MEDLINE | ID: mdl-6433401
18.
An Esp Pediatr ; 15(5): 474-7, 1981 Nov.
Article in Spanish | MEDLINE | ID: mdl-7332150

ABSTRACT

A case of ataxia-telangiectasis is reported, the pattern of cellulo-humoral immunity is altered with frequent infection of the respiratory tract. Emphasis is made on the new approach to brain alterations by means of cerebral angiogammagraphy and sequential gammagraphy.


Subject(s)
Ataxia Telangiectasia/diagnostic imaging , Brain/diagnostic imaging , Ataxia Telangiectasia/immunology , Child, Preschool , Humans , IgA Deficiency , Immunoglobulin A, Secretory/deficiency , Male , Radionuclide Imaging
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