In 2013, Guillén-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. The
patient carried two different potentially pathogenic variants that affected splicing
of exon 7 in BSCL2.To read this article in full you will need to make a payment
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References
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Article Info
Publication History
Published online: August 24, 2018
Accepted:
May 4,
2018
Received in revised form:
May 4,
2018
Received:
November 7,
2017
Identification
Copyright
© 2018 Society of Biological Psychiatry.