Neurol India Home 

Year : 2016  |  Volume : 64  |  Issue : 7  |  Page : 129-

Magnetic resonance imaging of ataxia-telangiectasia

Carlos Zamora1, Noushin Yahyavi-Firouz-Abadi2, Gokhan Kuyumcu3, Marinos Kontzialis3,  
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

Correspondence Address:
Gokhan Kuyumcu
Division of Neuroradiology, Rush University Medical Center, 1653 W, Congress Parkway, Chicago, IL 60612

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

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 2020 Jul 2 ];64:129-129
Available from:

Full Text

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}

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]

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.


1Wallis 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.
2Ciccia A, Elledge SJ. The DNA damage response: Making it safe to play with knives. Mol Cell 2010;40:179-204.
3Lin DD, Barker PB, Lederman HM, Crawford TO. Cerebral abnormalities in adults with ataxia-telangiectasia. AJNR Am J Neuroradiol 2014;35:119-23.
4Sahama I, Sinclair K, Pannek K, Lavin M, Rose S. Radiological imaging in ataxia telangiectasia: A review. Cerebellum 2014;13:521-30.