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Table of Contents    
Year : 2016  |  Volume : 64  |  Issue : 7  |  Page : 129

Magnetic resonance imaging of ataxia-telangiectasia

1 Division of Neuroradiology, University of North Carolina School of Medicine, 3326 Old Infirmary Rd, Chapel Hill, NC 27514, USA
2 The Russell H. Morgan Department of Radiology and Radiological Science, Division of Neuroradiology, Johns Hopkins University School of Medicine, Phipps B-112, Baltimore, MD 21287, USA
3 Division of Neuroradiology, Rush University Medical Center 1653 W, Congress Parkway, Chicago, IL 60612, USA

Date of Web Publication3-Mar-2016

Correspondence Address:
Gokhan Kuyumcu
Division of Neuroradiology, Rush University Medical Center, 1653 W, Congress Parkway, Chicago, IL 60612
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.178058

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How to cite this article:
Zamora C, Yahyavi-Firouz-Abadi N, Kuyumcu G, Kontzialis M. Magnetic resonance imaging of ataxia-telangiectasia. Neurol India 2016;64, Suppl S1:129

How to cite this URL:
Zamora C, Yahyavi-Firouz-Abadi N, Kuyumcu G, Kontzialis M. Magnetic resonance imaging of ataxia-telangiectasia. Neurol India [serial online] 2016 [cited 2021 Jan 26];64, Suppl S1:129. Available from:

A 27-year-old male patient with documented history of ataxia-telangiectasia (A-T) presented with progressive episodes of headache, which prompted an magnetic resonance imaging examination [Figure 1]. His physical examination revealed bilateral prominent telangiectasias in the bulbar conjunctivae. He demonstrated mild dysarthria, a delay in initiation of speech, and right beating nystagmus. He had abnormal finger-nose-finger maneuvers and absent deep tendon reflexes.
Figure 1: There is marked cerebellar atrophy on the sagittal T1-weighted images (a). Confluent bilateral white matter hyperintensities are demonstrated on T2 fluid attenuated inversion recovery (b). There are innumerable foci of increased susceptibility on susceptibility-weighted imaging (c), some of which demonstrate contrast enhancement (d), consistent with capillary telangiectasias

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A-T is an autosomal recessive disorder that is characterized by cerebellar degeneration, oculomucocutaneous telangiectasias, immunodeficiency, predisposition to malignancies, hypogonadism, and radiosensitivity. [1] The hallmark of the disorder is cerebellar ataxia, which is universally present and becomes apparent between 2 and 4 years of age. [1] The causative gene, called ataxia telangiectasia mutated, is localized in chromosome 11q22-23 and encodes a serine-threonine kinase, which is involved in the DNA damage response and associated cell-cycle regulation. [2,3] Over 500 mutations have been identified. [1],[3],[4] Cerebellar atrophy is the most constant finding on imaging [Figure 1]a. [4] Multiple capillary telangiectasias are demonstrated on susceptibility weighted imaging and following contrast administration [Figure 1]b-d. In a recent series, T2 fluid attenuated inversion recovery hyperintensities in the hemispheric white matter were associated with diminished metabolite concentration on magnetic resonance spectroscopy. [3] These areas might represent reduced cellularity with edema or perhaps gliosis rather than demyelination or ischemia. [3]

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  References Top

Wallis LI, Griffiths PD, Ritchie SJ, Romanowski CA, Darwent G, Wilkinson ID. Proton spectroscopy and imaging at 3T in ataxia-telangiectasia. AJNR Am J Neuroradiol 2007;28:79-83.  Back to cited text no. 1
Ciccia A, Elledge SJ. The DNA damage response: Making it safe to play with knives. Mol Cell 2010;40:179-204.  Back to cited text no. 2
Lin DD, Barker PB, Lederman HM, Crawford TO. Cerebral abnormalities in adults with ataxia-telangiectasia. AJNR Am J Neuroradiol 2014;35:119-23.  Back to cited text no. 3
Sahama I, Sinclair K, Pannek K, Lavin M, Rose S. Radiological imaging in ataxia telangiectasia: A review. Cerebellum 2014;13:521-30.  Back to cited text no. 4


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