Abstract
The clinical diagnosis of ataxia-telangiectasia (AT) is difficult before the age of 4 years. We report clinical and cytogenetic data on three early-onset, early-diagnosed AT patients at the age of 12, 18 and 22 months, respectively. Postural instability of the trunk, characterized by motor impersistence, was the earliest neurological sign detected as early as 1 year of life. Dystonic movements and postures of arms and trunk and a subtle disorder of eye movement (blinking before gaze changing, increased latency and dysmetry of saccades) were observed during the 2nd year of life. All patients exhibited an unusual temper tantrum. We also observed an increased bleomycin-induced chromosomal instability in patient's cells in the early stages of the disease before all the clinical hallmarks were apparent. Our data suggest that detection of clinical indications, leading to early laboratory confirmation of AT, can reduce the age at diagnosis.
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Abbreviations
- AT:
-
ataxia-telangiectasia
- BLM:
-
bleomycin
- LCL:
-
lymphoblastoid cell line
References
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Leuzzi, V., Elli, R., Antonelli, A. et al. Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients. Eur J Pediatr 152, 609–612 (1993). https://doi.org/10.1007/BF01954092
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DOI: https://doi.org/10.1007/BF01954092