title: COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.
abstract: BACKGROUND
  Mutations 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.
  
  
  METHODS
  Here, we report three new cases that, like five patients we previously described, show the novel common finding of raised creatine kinase (CK) concentration.
  
  
  CONCLUSIONS
  Raised CK concentration, in addition to intracranial calcification, is to be considered another useful pointer to a final diagnosis of COL4A1-related disease.
authors.affiliation: Child Neurology and Psychiatry Unit, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy. davidetondu@hotmail.com
authors.forename: Davide
authors.initials: D
authors.lastname: Tonduti
authors.forename: Anna
authors.initials: A
authors.lastname: Pichiecchio
authors.forename: Roberta
authors.initials: R
authors.lastname: La Piana
authors.forename: John H
authors.initials: JH
authors.lastname: Livingston
authors.forename: Daniel A
authors.initials: DA
authors.lastname: Doherty
authors.forename: Anirban
authors.initials: A
authors.lastname: Majumdar
authors.forename: Susan
authors.initials: S
authors.lastname: Tomkins
authors.forename: Manuele
authors.initials: M
authors.lastname: Mine
authors.forename: Mauro
authors.initials: M
authors.lastname: Ceroni
authors.forename: Ivana
authors.initials: I
authors.lastname: Ricca
authors.forename: Umberto
authors.initials: U
authors.lastname: Balottin
authors.forename: Simona
authors.initials: S
authors.lastname: Orcesi
mesh_terms: D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D002114:Calcinosis / Q000209:etiology* / Q000235:genetics; D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D024141:Collagen Type IV / Q000235:genetics*; D003402:Creatine Kinase / Q000378:metabolism*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009413:Nerve Fibers, Myelinated / Q000473:pathology
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV; D003402:Creatine Kinase