Regressive Autism Spectrum Disorder Expands the  Phenotype of BSCL2/Seipin-Associated Neurodegeneration

In 2013, Guill én-Navarro et al. (1) described 6 Spanish patients from Murcia, Spain, affected with a lethal neurodegenerative syndrome during infancy. All the patients were homozygous or compound heterozygous for a rare BSCL2 exon 7–skipping variant. This disorder was called progressive encephalopathy with or without lipodystrophy, or Celia's encephalopathy (2). Since then, no other case has been published, and the phenotypic variability of this genetic event remains unknown. Here, we report a female patient with regressive autism spectrum disorder (ASD) who developed atypical parkinsonism in adulthood.

Source: Biological Psychiatry - August 24, 2018 Category: Psychiatry Authors: Alice Poisson, Nicolas Chatron, Audrey Labalme, Marianne Till, Emmanuel Broussolle, Damien Sanlaville, Caroline Demily, Gaetan Lesca Tags: Correspondence Source Type: research