Objective: To characterize the clinical and radiological phenotype in patients with AT and correlate with the genetic analysis.

Background: AT is a rare autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia, telangiectasia, predisposition to malignancy and immunodeficiency. Over the years, we have observed that, AT has been widely studied in different population groups, but there are few studies in population from the Indian subcontinent. Therefore, this is an attempt  to look for typical and atypical clinical features as well as genetic findings in this population.

Method: A retrospective study was conducted in 15 patients diagnosed clinically with AT over the last 5 years using data collected through electronic medical records. Analysis was done using SPSS v.21.0

Results: Out of the 15 patients 67% of them were males and 33% females. Consanguinity was observed in 33% of them. A positive family history was present for 33% of patients.Around 80%of them presented clinically with slurred speech, ocular telangiectasia and 100% of them had cerebellar ataxia. Only 46.7% had oculomotor apraxia. Dystonia was observed in 13%. Atypical Brain MRI findings were polymicrogyria, focal bleed in posteromedial aspect of left temporal lobe, mild dysmorphic appearance of corpus callosum. Hyper IgM syndrome was detected in 40% of patients. Abnormal karyotype was reported in 12 subjects. Mutations were reported in ATM gene of 8 patients who underwent molecular testing. Amongst identified mutations, 7 were reported in HGMD/dbSNP and 3 are novel.One patient who presented with ichthyosis was identified to have an additional CYP4F22 mutation. None of the patients developed malignancy till last follow up nor was there a family history of cancer.

Conclusion: We observed consanguinity was high in our series. Telangiectasia was not present in 20% despite positive cytogenetic and molecular findings. Molecular analysis identified different mutations in 8 patients. AT should be confirmed by molecular or clinical exome testing in young onset cerebellar ataxia even without telangietasia.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-descriptive-study-with-molecular-and-cytogenetic-analysis-in-patients-of-ataxia-telangiectasiaat-from-the-indian-subcontinent/