Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI

Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI

Abstract Background Phelan-McDermid syndrome (PMS) is a rare multisystem disease with global developmental delay and autistic features. Genetically, the disease is based on a heterozygous deletion of chromosome 22q13.3 with involvement of at least part of the SHANK3 gene or heterozygous pathogenic v...

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Bibliographic Details
Main Authors: Sarah Jesse, Hans-Peter Müller, Hans-Jürgen Huppertz, Stephanie Andres, Albert C. Ludolph, Michael Schön, Tobias M. Boeckers, Jan Kassubek
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Phelan-McDermid syndrome
SHANK3
Cerebrospinal fluid
Tau-protein
Amyloid-ß
Neurodegeneration
Online Access:https://doi.org/10.1186/s13023-023-02863-7

Internet

https://doi.org/10.1186/s13023-023-02863-7

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