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Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants

2022; Elsevier BV; Volume: 225; Linguagem: Inglês

10.1016/j.clineuro.2022.107584

1872-6968

Francesco Nicita, Chiara Aiello, Alessia Carboni, Daniela Longo, Enrico Bertini, Lorena Travaglini,

RNA Research and Splicing

Dominant COL4A1 and COL4A2 mutations cause a broad spectrum of cerebrovascular diseases, whose onset varies from fetal to adult life, mostly represented by prenatal-neonatal intracerebral hemorrhage with porencephaly and by periventricular leukomalacia with calcifications, corresponding clinical diagnoses of cerebral palsy mimics. Axenfeld-Rieger syndrome with leukoencephalopathy, HANAC syndrome, young- and late-onset stroke and malformation of cortical development are rarer presentations. Very recently, the existence of recessive COL4A1- and COL4A2-related forms has been documented. We broaden the phenotypic and genotypic spectra of COL4A2-related disease by describing this second family with recessive pathogenic variants and neuroimaging phenotype of leukoencephalopathy with spot-like calcifications.