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Verhagen, M.M., Last, J.I., Hogervorst, F.B., Smeets, D.F., Roeleveld, N., Verheijen, F., Catsman-Berrevoets, C.E., Wulffraat, N.M., Cobben, J.M., Hiel, J., Brunt, E.R., Peeters, E.A., Gomez Garcia, E.B., van der Knaap, M.S., Lincke, C.R., Laan, L.A., Tijssen, M.A., van Rijn, M.A., Majoor-Krakauer, D., Visser, M., van’t Veer, L.J., Kleijer, W.J., van de Warrenburg, B.P., Warris, A., de Groot, I.J., de Groot, R., Broeks, A., Preijers, F., Kremer, B.H., Weemaes, C.M., Taylor, M.A., van Deuren, M. and Willemsen, M.A. (2012) Presence of ATM Protein and Residual Kinase Activity Correlates with the Phenotype in Ataxia-Telangiectasia: A Genotype-Phenotype Study. Human Mutation, 33, 561-571.
http://dx.doi.org/10.1002/humu.22016

has been cited by the following article:

• TITLE: Clinico-Radiological Correlation in Children with Ataxia Telangiectasia in Qatar

  AUTHORS: Mohammad Ehlayel, Mahmoud F. Elsaid, Rana Shami, Khalid Salem, Abdulbari Bener

  KEYWORDS: Ataxia Telangiectasia, Cerebellar Atrophy, MRI, Clinical Severity, Children

  JOURNAL NAME: Open Journal of Immunology, Vol.5 No.1, March 17, 2015

  ABSTRACT: Introduction: Ataxia telangiectasia (AT) is a rare disease characterized by immunodeficiency and neurological manifestations. Ataxia, resulting from cerebella atrophy, runs a progressive incapacitating course. Clinical monitoring of the disease course is mandatory for early treatment. Aim: To study clinical severity of AT and correlate it with the degree of cerebellar atrophy. Patients and Methods: We retrospectively studied all children (less than 14 years) with AT seen at Hamad General Hospital Clinics between 1998-2013. We collected basic demographic data, parental consan-guinity, family history, AT clinical severity scores, and reviewed CBC with differential counts; alpha-fetoprotein, serum immunoglobulins and lymphocyte subsets. Cranial MRI scans of each subject were reviewed by a neuroradiologist. Cerebellar atrophy was visually and semi-quantitatively scored. Results: We analyzed data on 18 AT children (10 males and 8 females), mean age of 76.9 months. 77.8% had a positive family history of AT and 41.7% parental consanguinity. Lymphopenia was observed in 77.8% and high serum alpha-fetoprotein in 87.5% of children. Clinical severity of ataxia was 17.1 ± 8.4 (mean ± SD); 86.7% of patients were moderate-severe. MRI cerebellar atrophy score was 1.9 ± 1.3 (mean ± SD), and moderate in 51% of patients. AT clinical severity score correlated (coefficient r = 0.566) but not statistically significant p = 0.088) with MRI cerebellar atrophy scores. Conclusions: Moderate to severe ataxia and marked cerebellar atrophy are quite common in AT children. There is a correlation between AT clinical severity and cerebellar atrophy. Larger prospective studies might further determine the significance of our observations and help practicing practitioners monitor the progression of the disease.