LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.
Christiane M NeuhoferClaudia B CatarinoHeinrich SchmidtKlaus SeelosBader AlhaddadTobias B HaackFlorentine RadelfahrPublished in: Neurology. Genetics (2020)
This consanguineous family with a novel mutation expands the spectrum of LINS1-associated disorder to include developmental regression, oculomotor signs, and dystonia, previously not described in the published 9 cases of this rare disorder. The 3T-MRI data from our 3 patients and review of the neuroimaging data in the literature showed unspecific brain MRI changes. LINS1 protein is a known modulating factor of the Wnt signaling pathway, with important roles in organogenesis including of the cerebral cortex. More research is warranted to disentangle the underlying pathophysiologic mechanisms, leading to cognitive impairment and the complex phenotype of LINS1-associated disorder.
Keyphrases
- signaling pathway
- cognitive impairment
- end stage renal disease
- magnetic resonance imaging
- contrast enhanced
- electronic health record
- newly diagnosed
- systematic review
- chronic kidney disease
- epithelial mesenchymal transition
- cell proliferation
- computed tomography
- prognostic factors
- subarachnoid hemorrhage
- peritoneal dialysis
- cerebral ischemia
- deep brain stimulation
- magnetic resonance
- resting state
- multiple sclerosis
- machine learning
- blood brain barrier
- patient reported outcomes
- amino acid
- cerebral blood flow