The Cerebellum

, Volume 12, Issue 4, pp 596–599 | Cite as

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

  • Silvia Palmeri
  • Alessandra Rufa
  • Barbara Pucci
  • Emiliano Santarnecchi
  • Alessandro Malandrini
  • Maria Laura Stromillo
  • Marco Mandalà
  • Francesca Rosini
  • Nicola De Stefano
  • Antonio Federico
Letter to the Editor

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.

Keywords

Ataxia-telangiectasia-like disorder ATLD Ocular apraxia Autosomal recessive ataxia Mre11 mutation 

Notes

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.

Supplementary material

ESM 1

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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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Silvia Palmeri
    • 1
    • 4
  • Alessandra Rufa
    • 1
  • Barbara Pucci
    • 2
  • Emiliano Santarnecchi
    • 1
  • Alessandro Malandrini
    • 1
  • Maria Laura Stromillo
    • 1
  • Marco Mandalà
    • 3
  • Francesca Rosini
    • 1
  • Nicola De Stefano
    • 1
  • Antonio Federico
    • 1
  1. 1.Department of Neurological, Neurosurgical and Behavioural SciencesMedical School University of SienaSienaItaly
  2. 2.Department of NeurosciencesMedical School University of SienaSienaItaly
  3. 3.Department of Human Pathology and OncologyMedical School University of SienaSienaItaly
  4. 4.Neurological and Neurometabolic UnitS. Maria alle Scotte HospitalSienaItaly

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