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Ataxia telangiectasia.

Andreea Nissenkorn1, Bruria Ben-Zeev2

  • 1Pediatric Neurology Unit, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, Ramat Gan, Israel; National AT Center, Edmond and Lilly Safra Children Hospital, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

Handbook of Clinical Neurology
|November 14, 2015
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Summary

Ataxia telangiectasia (AT) is a genetic disorder impacting DNA repair and causing neurodegeneration. Understanding ATM protein

Keywords:
ATMCerebellarDNA repairmovement disorderneurodegeneration

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Area of Science:

  • Genetics
  • Neuroscience
  • Immunology

Background:

  • Ataxia telangiectasia (AT) is an autosomal recessive genetic disorder.
  • Caused by mutations in the ATM gene, affecting ATM protein function.
  • Characterized by systemic issues including radiosensitivity, immune deficiency, and lymphoid malignancies.

Purpose of the Study:

  • To elucidate the pathophysiological mechanisms of Ataxia telangiectasia.
  • To explore the role of ATM protein beyond DNA repair in neurological aspects.
  • To identify potential targets for future disease-modifying treatments.

Main Methods:

  • Review of existing literature on Ataxia telangiectasia and ATM gene function.
  • Analysis of systemic and neurological manifestations of the disease.
  • Exploration of ATM's role in cellular processes like DNA repair, oxidative defense, and mitochondrial homeostasis.

Main Results:

  • ATM's role in DNA repair explains systemic complications like radiosensitivity and malignancies.
  • Progressive cerebellar ataxia and atrophy are key neurological features, beginning in early childhood.
  • ATM's function in antioxidative defense, mitochondrial homeostasis, and chromatin packing is crucial for nervous system integrity.

Conclusions:

  • The neurodegenerative aspects of AT are linked to ATM's roles beyond DNA repair.
  • Further understanding of these mechanisms is vital for developing effective treatments.
  • Current treatments are supportive, improving quality of life but not altering the disease's poor prognosis.