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Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder

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Abstract

Ataxia-telangiectasia-like disorder (ATLD) due to mutations in the MRE11 gene is a very rare autosomal recessive disease, described so far in only 20 patients. Little is known about the onset of the first symptoms or the clinical course of the disease. The present report contributes to the diagnosis of ATLD and its prognosis at onset. We report 30 years of clinical and ophthalmic observations and the results of quantitative magnetic resonance (MR), MR spectroscopy (proton magnetic resonance spectroscopic imaging) and neuropsychological assessment in the first Italian siblings identified with ATLD. Although the disease had early onset and the clinical picture was initially severe, suggesting ataxia-telangiectasia, neurological impairment, ocular motor apraxia and neuropsychological tests showed very slow deterioration in adult age. The patients developed eye and head motor strategies to compensate ocular motor apraxia. MR measurements and MR spectroscopy disclosed widespread neuronal and axonal involvement. ATLD should be considered in patients with ocular apraxia and ataxia in infancy. The long follow-up provided insights into clinical outcome, with functional neuroimaging studies shedding light on the pathogenetic mechanisms of this rare disease.

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Acknowledgments

We thank Prof. G.C. Guazzi for allowing us to examine old clinical data of the patients and for the helpful clinical discussion.

Conflict of interest

None.

Ethical approval

All subjects gave their informed consent prior to inclusion in the study.

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Authors and Affiliations

  1. Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School University of Siena, Siena, Italy

    Silvia Palmeri, Alessandra Rufa, Emiliano Santarnecchi, Alessandro Malandrini, Maria Laura Stromillo, Francesca Rosini, Nicola De Stefano & Antonio Federico

  2. Department of Neurosciences, Medical School University of Siena, Siena, Italy

    Barbara Pucci

  3. Department of Human Pathology and Oncology, Medical School University of Siena, Siena, Italy

    Marco Mandalà

  4. Neurological and Neurometabolic Unit, S. Maria alle Scotte Hospital, Viale Bracci, 53100, Siena, Italy

    Silvia Palmeri

Authors
  1. Silvia Palmeri
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  2. Alessandra Rufa
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  3. Barbara Pucci
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  4. Emiliano Santarnecchi
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  5. Alessandro Malandrini
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  6. Maria Laura Stromillo
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  7. Marco Mandalà
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  8. Francesca Rosini
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  9. Nicola De Stefano
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  10. Antonio Federico
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Corresponding author

Correspondence to Silvia Palmeri.

Electronic Supplementary Material

Below is the link to the electronic supplementary material.

Patient 1 shows ataxic gait with dystonia of the limbs; eye movements show GEN and saccadic pursuits. Patient 2 shows abnormal eye-head coordination, large saccadic intrusions, GEN and smoother pursuits. (WMV 10769 kb)

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Palmeri, S., Rufa, A., Pucci, B. et al. Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder. Cerebellum 12, 596–599 (2013). https://doi.org/10.1007/s12311-013-0460-4

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  • DOI: https://doi.org/10.1007/s12311-013-0460-4

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