COL4A1-related disease: Raised creatine kinase and cerebral calcification as useful pointers

Davide Tonduti, Anna Pichiecchio, Roberta La Piana, John H. Livingston, Daniel A. Doherty, Anirban Majumdar, Susan Tomkins, Manuele Mine, Mauro Ceroni, Ivana Ricca, Umberto Balottin, Simona Orcesi

Research output: Contribution to journalArticlepeer-review


BackgroundMutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific. Case PresentationHere, we report three new cases that, like five patients we previously described, show the novel common finding of raised creatine kinase (CK) concentration. ConclusionRaised CK concentration, in addition to intracranial calcification, is to be considered another useful pointer to a final diagnosis of COL4A1-related disease.

Original languageEnglish
Pages (from-to)283-288
Number of pages6
Issue number5
Publication statusPublished - 2012


  • cataract
  • cerebral calcification
  • COL4A1
  • creatine kinase

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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