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Saviozzi, S., Saluto, A., Taylor, A.M., Last, J.I., Trebini, F., Paradiso, M.C., Grosso, E., Funaro, A., Ponzio, G., Migone, N. and Brusco, A. (2002) A Late Onset Variant of Ataxia-Telangiectasia with a Compound Heterozygous Genotype, A8030G/7481insA. Journal of Medical Genetics, 39, 57-61.
http://dx.doi.org/10.1136/jmg.39.1.57

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.