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Huntington disease (HD) involves early neurodevelopmental alterations due to the HTT gene mutation. Understanding these changes may reveal therapeutic windows to delay disease onset.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Huntington disease (HD) is a genetic disorder caused by CAG repeat expansion in the HTT gene.
  • The HTT protein is vital for neuronal growth and intracellular transport.
  • Early neurodevelopmental abnormalities are observed in HD, even before clinical symptoms manifest.

Purpose of the Study:

  • To review the role of HTT and the impact of its mutation (mHTT) during neurodevelopment in HD.
  • To examine the specific contribution of the cerebral cortex to HD neuropathology.
  • To identify potential therapeutic intervention windows during early development.

Main Methods:

  • Review of extensive research spanning nearly 25 years.
  • Integration of in vitro and in vivo studies.
  • Analysis of human fetal samples, cell, and animal models.

Main Results:

  • Neurodevelopment is significantly altered in HD, with detectable abnormalities during the presymptomatic phase.
  • Mutation carriers may exhibit subtle cognitive, psychiatric, or motor deficits years before diagnosis.
  • Despite lifelong presence of mHTT, a long asymptomatic period is typical in HD.

Conclusions:

  • Early developmental processes in HD are critical for understanding neuropathology.
  • Identifying therapeutic targets during neurodevelopment could extend the presymptomatic phase.
  • Interventions during developmental plasticity may allow the brain to compensate for errors, delaying neurodegeneration.