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Related Concept Videos

Visual Agnosia01:12

Visual Agnosia

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Visual agnosia is a condition characterized by the inability to recognize visually presented objects despite having normal vision. For instance, a person with visual agnosia can describe the shape and color of an object but cannot identify or name it. This impairment does not affect their visual field, acuity, color vision, brightness discrimination, language, or memory. An example of this condition in a social setting is someone at a dinner party asking for "that silver thing with a round...
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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
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At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
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Related Experiment Video

Updated: Jun 6, 2025

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
08:41

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration

Published on: December 27, 2024

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Ataxia telangiectasia.

John Collyer1, Deepa S Rajan1

  • 1UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA.

Seminars in Pediatric Neurology
|December 2, 2024
PubMed
Summary
This summary is machine-generated.

Ataxia telangiectasia (AT) is a rare genetic disorder affecting multiple systems. This review covers ATM gene function, AT symptoms, complications, and emerging therapeutic research.

Keywords:
AtaxiaAtaxia telangiectasiaNeurocutaneous disorder

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Area of Science:

  • Genetics
  • Neurology
  • Immunology

Background:

  • Ataxia telangiectasia (AT) is a rare neurocutaneous syndrome.
  • Caused by biallelic pathogenic variants in the ataxia telangiectasia mutated (ATM) gene.
  • Characterized by cerebellar ataxia and oculocutaneous telangiectasias.

Purpose of the Study:

  • To review the function of the ATM gene.
  • To discuss neurologic and non-neurologic complications of AT.
  • To explore therapeutic research for AT.

Main Methods:

  • Literature review of ATM gene function.
  • Analysis of neurologic manifestations in AT patients.
  • Examination of non-neurologic complications.
  • Review of AT mimickers and DNA repair disorders.
  • Survey of current therapeutic research.

Main Results:

  • The ATM gene is crucial for DNA repair and cell cycle regulation.
  • Neurologic symptoms include cerebellar ataxia, affecting motor control.
  • Non-neurologic complications involve immunodeficiency, increased cancer risk, respiratory issues, and endocrine problems.
  • Differential diagnosis includes other DNA repair disorders.
  • Therapeutic research focuses on gene therapy, small molecule drugs, and supportive care.

Conclusions:

  • AT is a complex multisystem disorder beyond its namesake symptoms.
  • Understanding ATM gene function is key to managing AT.
  • Comprehensive management requires addressing neurologic and non-neurologic aspects.
  • Ongoing research holds promise for future AT therapies.