Ataxia-telangiectasia is an autosomal recessive disorder caused by mutation in the ATM gene.
Symptoms are characterized by progressive cerebellar ataxia, dysarthria, oculomotor apraxia,
chorea/dystonia, oculocutaneous telangiectasias, endocrine dysfunction, immunodeficiency,
premature aging, radiosensitivity, and predisposition to cancer. Ataxia is evident in the
first year of life, and results in wheelchair dependency for most children by age of 10
years-old. Laboratory tests show raised serum alpha-fetoprotein levels. Brain MRI shows
cerebellar atrophy (Figure). It may also show multiple
T1 and T2 hypointense foci suggestive of hemosiderin, probably related to thrombosis and
vascular leaks from multiple capillary telangiectasias11 Lin, DD, Barker PB, Lederman HM, Crawford TO. Cerebral abnormalities in
adults with ataxia-telangiectasia. AJNR Am J Neurodadiol. 2014;35(1):119-23.
http://dx.doi.org/10.3174/ajnr.A3646
https://doi.org/10.3174/ajnr.A3646...
,22 Sahama I, Sinclair K, Pannek K, Lavin M, Rose S. Radiological imaging in
ataxia telangiectasia: a review. Cerebellum. 2014;13(4):521-30.
http://dx.doi.org/10.1007/s12311-014-0557-4
https://doi.org/10.1007/s12311-014-0557-...
. There
is no definitive treatment available33 Chaudhary MW, Al-Baradie RS. Ataxia-telangiectasia: future prospects. Appl
Clin Genet. 2014;7:159-67. http://dx.doi.org/10.2147/TACG.S35759
https://doi.org/10.2147/TACG.S35759...
.
References
-
1Lin, DD, Barker PB, Lederman HM, Crawford TO. Cerebral abnormalities in adults with ataxia-telangiectasia. AJNR Am J Neurodadiol. 2014;35(1):119-23. http://dx.doi.org/10.3174/ajnr.A3646
» https://doi.org/10.3174/ajnr.A3646 -
2Sahama I, Sinclair K, Pannek K, Lavin M, Rose S. Radiological imaging in ataxia telangiectasia: a review. Cerebellum. 2014;13(4):521-30. http://dx.doi.org/10.1007/s12311-014-0557-4
» https://doi.org/10.1007/s12311-014-0557-4 -
3Chaudhary MW, Al-Baradie RS. Ataxia-telangiectasia: future prospects. Appl Clin Genet. 2014;7:159-67. http://dx.doi.org/10.2147/TACG.S35759
» https://doi.org/10.2147/TACG.S35759
Publication Dates
-
Publication in this collection
July 2015
History
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Received
23 Dec 2014 -
Reviewed
20 Mar 2015 -
Accepted
09 Apr 2015