Severe white matter damage in SHANK3 deficiency: a human and translational study.

Sarah JesseHans-Peter MüllerMichael SchoenHarun AsogluJuergen BockmannHans-Juergen Huppertz Volker Rasche Albert C Ludolph Tobias M Böckers Jan Kassubek

Published in: Annals of clinical and translational neurology (2019)

In summary, these translational data provide strong evidence that the SHANK3-deficiency-associated pathomechanism presents predominantly with a white matter disease. Further studies should concentrate on the role of SHANK3 during early axonal pathfinding/wiring and in myelin formation.

Keyphrases

white matter
multiple sclerosis
endothelial cells
spinal cord injury
oxidative stress
electronic health record
replacement therapy
early onset
induced pluripotent stem cells
african american
case control
deep learning
drug induced