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Neurology Genetics
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April 2018; 4 (2) ArticleOpen Access

Ataxia-telangiectasia

A new remitting form with a peculiar transcriptome signature

Vincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, Caterina Caputi, Luciana Chessa, Mauro Magnani
First published March 27, 2018, DOI: https://doi.org/10.1212/NXG.0000000000000228
Vincenzo Leuzzi
From the Department of Pediatrics, Child Neurology and Psychiatry (V.L., D.D.A., C.C.), and Faculty of Medicine and Psychology (L.C.), Sapienza University of Rome “La Sapienza”; and Department of Biomolecular Sciences (M. Menotta, M. Magnani), University of Urbino “Carlo Bo,” Italy.
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Daniela D'Agnano
From the Department of Pediatrics, Child Neurology and Psychiatry (V.L., D.D.A., C.C.), and Faculty of Medicine and Psychology (L.C.), Sapienza University of Rome “La Sapienza”; and Department of Biomolecular Sciences (M. Menotta, M. Magnani), University of Urbino “Carlo Bo,” Italy.
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Michele Menotta
From the Department of Pediatrics, Child Neurology and Psychiatry (V.L., D.D.A., C.C.), and Faculty of Medicine and Psychology (L.C.), Sapienza University of Rome “La Sapienza”; and Department of Biomolecular Sciences (M. Menotta, M. Magnani), University of Urbino “Carlo Bo,” Italy.
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Caterina Caputi
From the Department of Pediatrics, Child Neurology and Psychiatry (V.L., D.D.A., C.C.), and Faculty of Medicine and Psychology (L.C.), Sapienza University of Rome “La Sapienza”; and Department of Biomolecular Sciences (M. Menotta, M. Magnani), University of Urbino “Carlo Bo,” Italy.
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Luciana Chessa
From the Department of Pediatrics, Child Neurology and Psychiatry (V.L., D.D.A., C.C.), and Faculty of Medicine and Psychology (L.C.), Sapienza University of Rome “La Sapienza”; and Department of Biomolecular Sciences (M. Menotta, M. Magnani), University of Urbino “Carlo Bo,” Italy.
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Mauro Magnani
From the Department of Pediatrics, Child Neurology and Psychiatry (V.L., D.D.A., C.C.), and Faculty of Medicine and Psychology (L.C.), Sapienza University of Rome “La Sapienza”; and Department of Biomolecular Sciences (M. Menotta, M. Magnani), University of Urbino “Carlo Bo,” Italy.
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Ataxia-telangiectasia
A new remitting form with a peculiar transcriptome signature
Vincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, Caterina Caputi, Luciana Chessa, Mauro Magnani
Neurol Genet Apr 2018, 4 (2) e228; DOI: 10.1212/NXG.0000000000000228

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Abstract

Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mild- and late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genotype who experienced an unexpected favorable course.

Methods A 24-year-old woman developed, by the age of 3 years, all the classic symptoms of AT associated with increased alpha-fetoprotein levels, a compound AT-mutated (ATM) genotype with an inframe deletion c.2250G>A (p.Glu709_Lys750del42) and a missense mutation c.8122G>A (p.Asp2708Gln), and no residual ATM protein expression. By the age of 12 years, ataxia slowly disappeared, and a very mild choreic disorder was the only neurologic feature in adulthood. Brain MRI was normal. The blood transcriptome profile was assessed and compared with that of healthy controls and patients with the classic AT phenotype.

Results The atypical clinical course of the patient was associated with a transitional transcriptome profile: while 90% of transcripts were expressed as in patients with the classic AT presentation, 10% of transcripts were expressed as in healthy controls.

Conclusions The unexpected mild clinical outcome and transcriptome profile of this patient with AT suggest the existence of individual resilience to the altered ATM synthesis. Because of their possible prognostic and therapeutic implications, the identification of modifier factors affecting the phenotype would deserve further studies.

Glossary

AFP=
alpha-fetoprotein;
AT=
ataxia-telangiectasia;
ATM=
ataxia-telangiectasia mutated;
IgA=
immunoglobulin A

Footnotes

  • Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/NG.

  • The Article Processing Charge was funded by the authors.

  • Received September 17, 2017.
  • Accepted in final form November 29, 2017.
  • Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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