Late Cognitive or Mood Alterations With 'Status Cribrosum' and Diffuse White Matter Lesions: A New Cerebral Small Vessel Disease Phenotype Associated With Rare COL4A1 Variants Located Within Exon 23.

Abstract excerpt

OBJECTIVE: To report an atypical phenotype associated with two rare COL4A1 glycine missense variants located in exon 23. METHODS: Clinical, neuropsychological, and brain imaging data of four patients with such variants were reported. RESULTS: Four unrelated patients presented with late-onset cognitive alterations starting between 55 and 65 years of age. Brain magnetic resonance imaging (MRI) showed extensive...

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