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

ABSTRACT:

Objective

Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as Phelan-McDermid syndrome, result in a syndromic form of the autism spectrum as well as in global developmental delay, intellectual disability, and several neuropsychiatric comorbidities. The exact pathophysiological mechanisms underlying the disease are still far from being deciphered but studies of SHANK3 models have contributed to the understanding of how the loss of the synaptic protein SHANK3 affects neuronal function.

Methods and results

Diffusion tensor imaging-based and automatic volumetric brain mapping were performed in 12 SHANK3-deficient participants (mean age 19 ± 15 years) versus 14 age- and gender-matched controls (mean age 29 ± 5 years). Using whole bra

SUBMITTER: Jesse S 

PROVIDER: S-EPMC6952316 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature