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Abnormal parieto-motor connectivity in Tuberous Sclerosis Complex.

Luigi D'Argenzio1, Giacomo Koch, Roberta Bombardieri

  • 1Paediatric Neurology and Psychiatry Unit, Neuroscience Department, Tor Vergata University, Rome, Italy. luigi.d.argenzio@uniroma2.it

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Tuberous Sclerosis Complex (TSC) patients show altered brain connectivity. Non-medicated TSC patients had abnormal posterior parietal cortex (PPC) to motor cortex (M1) connection excitability, suggesting a role in epilepsy.

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Area of Science:

  • Neuroscience
  • Neurology
  • Medical research

Background:

  • Tuberous Sclerosis Complex (TSC) is a genetic disorder.
  • Abnormal brain connectivity is a suspected factor in TSC pathophysiology.
  • The posterior parietal cortex (PPC) and motor cortex (M1) are crucial for motor control and cognitive functions.

Purpose of the Study:

  • To investigate the functional connectivity between the PPC and M1 in individuals with TSC.
  • To compare brain connectivity in non-medicated TSC patients, medicated TSC patients, and healthy controls.
  • To explore the potential link between altered PPC-M1 connectivity and the epileptic phenotype in TSC.

Main Methods:

  • Utilized a twin-coil Transcranial Magnetic Stimulation (TMS) protocol.
  • Assessed the excitability of the connection between the PPC and M1.
  • Compared results across three groups: healthy subjects, TSC patients on antiepileptic drugs, and non-medicated TSC patients.

Main Results:

  • Non-medicated TSC patients demonstrated significantly abnormal excitability in the PPC-M1 connection.
  • This abnormality was distinct when compared to both healthy individuals and TSC patients receiving antiepileptic drug treatment.
  • Suggests a specific alteration in neural pathways in untreated TSC.

Conclusions:

  • Altered connectivity between the PPC and M1 is present in Tuberous Sclerosis Complex.
  • This abnormal excitability in non-medicated patients may contribute to the development or manifestation of epilepsy in TSC.
  • Findings highlight the importance of investigating neural connectivity in TSC pathophysiology and treatment.