Related Experiment Videos
Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients
V Leuzzi1, R Elli, A Antonelli
1Istituto di Neuropsichiatria Infantile, Università La Sapienza, Roma, Italy.
Insights
Early diagnosis of ataxia-telangiectasia (AT) is possible before age 4. Identifying early neurological signs and increased chromosomal instability can lead to earlier detection of this rare genetic disorder.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
- Cytogenetics
Background:
- Ataxia-telangiectasia (AT) diagnosis is challenging in young children.
- Early-onset AT often presents before the typical diagnostic age of 4 years.
Observation:
- Three early-onset AT patients were diagnosed between 12-22 months.
- Earliest signs included trunk postural instability (motor impersistence) by 1 year.
- Dystonic movements, eye movement disorders, and unusual temper tantrums were noted in the second year of life.
Findings:
- Increased bleomycin-induced chromosomal instability was observed in early-stage AT cells.
- Subtle neurological signs like blinking before gaze changes and saccadic dysmetria were key indicators.
- Early clinical manifestations can precede the full spectrum of AT hallmarks.
Implications:
- Early detection of specific clinical signs can prompt timely laboratory confirmation of AT.
- Reducing diagnostic delay in AT is crucial for timely intervention and management.
- This study highlights the importance of recognizing subtle early-onset AT symptoms.
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.