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Hypomyelinating disorders: An MRI approach.

A James Barkovich1, Sean Deon2

  • 1Neuroradiology Section, Department of Radiology and Biomedical Imaging, UCSF-Benioff Children's Hospital, San Francisco, Q6 CA, United States.

Neurobiology of Disease
|October 20, 2015
PubMed
Summary
This summary is machine-generated.

Hypomyelinating disorders (HMDs) are a major group of undiagnosed genetic leukoencephalopathies. Recognizing specific MRI features has improved diagnosis and understanding of these white matter conditions.

Keywords:
Dysmyelinating and demyelinating disordersGenetic leukoencephalopathiesHypomyelinating disorders

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Area of Science:

  • Neurology
  • Radiology
  • Genetics

Background:

  • Hypomyelinating disorders (HMDs) are the largest category of undiagnosed genetic leukoencephalopathies.
  • They are characterized by reduced or absent myelin development, identifiable via specific MRI findings.
  • The concept of HMDs was established by recognizing distinct MRI characteristics differentiating them from dysmyelinating and demyelinating disorders.

Purpose of the Study:

  • To review the clinical presentations, standard MRI findings, and advanced MRI techniques for HMDs.
  • To discuss methods for quantifying myelination to assess disease progression and treatment efficacy.
  • To explore the physiologic and genetic underpinnings of HMDs.

Main Methods:

  • Review of existing literature on hypomyelinating disorders.
  • Analysis of clinical and imaging characteristics, including standard and novel MRI techniques.
  • Discussion of diagnostic criteria and classification systems for HMDs.

Main Results:

  • Specific MRI features, such as the absence of T2 hypointensity in white matter, are key diagnostic indicators for HMDs.
  • The recognition of these MRI findings has significantly increased HMD diagnoses.
  • HMDs represent a distinct group of disorders with unique genetic and physiologic bases.

Conclusions:

  • Hypomyelinating disorders are a significant group of genetic white matter diseases.
  • Standard and advanced MRI techniques are crucial for diagnosis and understanding HMDs.
  • Further research into quantifying myelination may aid in assessing disease course and treatment response.