title: Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.
abstract: BACKGROUND
  The etiologic determinants of stroke in young adults remain a diagnostic challenge in up to one-fourth of cases. Increasing evidences led to consider Fabry's disease (FD) as a possible cause to check up. We aimed at evaluating the prevalence of unrecognized FD in a cohort of patients with juvenile stroke in northern Sardinia.
  
  
  METHODS
  For this study, we enrolled 178 patients consecutively admitted to our Neurological Ward for ischemic stroke, transient ischemic attack, intracerebral haemorrhage, neuroradiological evidence of silent infarcts, or white matter lesions possibly related to cerebral vasculopathy at brain MRI, and cerebral venous thrombosis. The qualifying events have to occur between 18 and 55 years of age.
  
  
  RESULTS
  We identified two patients with an α-galactosidase A gene variant, with a prevalence of 0.9 %. According to recent diagnostic criteria, one patient, included for the occurrence of multiple white matter lesions at brain MRI, had a diagnosis of definite FD, the other, included for ischemic stroke, had a diagnosis of uncertain FD.
  
  
  CONCLUSIONS
  Our study places in a middle position among studies that found a prevalence of FD up to 4 % and others that did not find any FD patients. Our findings confirm that FD should be considered in the differential diagnosis of patients with juvenile stroke, particularly those with a personal or familial history positive for cerebrovascular events, or evidence of combined cardiologic and/or renal impairment. All types of cerebrovascular disorders should be screened for FD, including patients with white matter lesions possibly related to cerebral vasculopathy at brain MRI.
authors.affiliation: Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. laura.fancellu@gmail.com.
authors.forename: Laura
authors.initials: L
authors.lastname: Fancellu
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy. walterborsini@gmail.com.
authors.forename: Walter
authors.initials: W
authors.lastname: Borsini
authors.affiliation: Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy. ilaria.romani@unifi.it.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Romani
authors.affiliation: Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. angelopirisi@tiscali.it.
authors.forename: Angelo
authors.initials: A
authors.lastname: Pirisi
authors.affiliation: Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. gdeiana@uniss.it.
authors.forename: Giovanni Andrea
authors.initials: GA
authors.lastname: Deiana
authors.affiliation: Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. eliasechi@icloud.com.
authors.forename: Elia
authors.initials: E
authors.lastname: Sechi
authors.affiliation: Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. donpietros@hotmail.com.
authors.forename: Pietro Emiliano
authors.initials: PE
authors.lastname: Doneddu
authors.affiliation: Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. a.laura87@hotmail.it.
authors.forename: Anna Laura
authors.initials: AL
authors.lastname: Rassu
authors.affiliation: Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. dmrrti.1@gmail.com.
authors.forename: Rita
authors.initials: R
authors.lastname: Demurtas
authors.affiliation: Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, Policlinico San Matteo, University Hospital, Pavia, Italy. a.scarabotto@alice.it.
authors.forename: Anna
authors.initials: A
authors.lastname: Scarabotto
authors.affiliation: Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, Policlinico San Matteo, University Hospital, Pavia, Italy. p.cassini@smatteo.pv.it.
authors.forename: Pamela
authors.initials: P
authors.lastname: Cassini
authors.affiliation: Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, Policlinico San Matteo, University Hospital, Pavia, Italy. e.arbustini@smatteo.pv.it.
authors.forename: Eloisa
authors.initials: E
authors.lastname: Arbustini
authors.affiliation: Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. gpsechi@uniss.it.
authors.forename: GianPietro
authors.initials: G
authors.lastname: Sechi
mesh_terms: D000293:Adolescent; D000328:Adult; D002561:Cerebrovascular Disorders / Q000150:complications*; D015331:Cohort Studies; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055815:Young Adult; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase