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CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus-Ataxia, and Sensorimotor Neuropathy.
Mov Disord Clin Pract
January 2025
Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
CAPRIN1 causes aberrant protein aggregation and associates with early-onset ataxia.
Cell Mol Life Sci
September 2022
Institute of Human Genetics, University Hospital of Cologne, University Cologne, 50931, Cologne, Germany.
CAPRIN1 is a ubiquitously expressed protein, abundant in the brain, where it regulates the transport and translation of mRNAs of genes involved in synaptic plasticity. Here we describe two unrelated children, who developed early-onset ataxia, dysarthria, cognitive decline and muscle weakness. Trio exome sequencing unraveled the identical de novo c.
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