PREVALENCE OF FABRY DISEASE AND CADASIL IN YOUNG PATIENTS WITH FIRST-EVER STROKE: THE PORTYSTROKE – SCREENING GENETIC CONDITIONS IN PORTUGUESE YOUNG STROKE PATIENTS

• Type: Article in International Scientific Journal
• Date: 2008

Authors

M. Viana-Baptista (Author) Other; S.M.Ferreira (Author) Other; T.P.Melo (Author) Other; M. Carvalho (Author) FMUP; V. T. Cruz (Author) Other; C. Carmona (Author) Other; F.A.Silva (Author) Other; J.P.Oliveira (Author) Other; J.M.Ferro (Author) Other; PORTYSTROKE investigators (Author) Other

Journal

Title: Cerebrovascular Diseases

Vol. 25

Initial page: 58

ISSN: 1015-9770

Publisher: Karger

Indexing

Pubmed / Medline

Scientific classification

CORDIS: Health sciences > Neuroscience > Neurology

Other information

Abstract (EN): Background: Despite extensive investigation, frequently the cause of stroke in young adults remains unclear. Fabry disease and CADASIL are monogenic disorders associated with early onset of stroke. Atypical phenotypes have been recognized and the diseases are probably under diagnosed in the stroke population. Methods: Between 11/06 and 10/07 all patients aged 18-55 years, with first-ever stroke, were considered for screening of these disorders in twelve Neurology Departments. From a total of 625 we studied 493 patients, mean age 45.4, 61% male (132 patients refused to participate, died before inclusion or were lost for other reasons): 74% ischemic stroke, 23% hemorrhagic stroke (including 26 with subarachnoid hemorrhage) and 3% cerebral venous thrombosis. All patients underwent extensive investigation. Ischemic strokes were classified according to TOAST criteria. The entire alpha-GAL gene and exons 4, 11, 18/19 of NOTCH3 gene were screened for mutations (up to now in 401 and 493 patients, respectively). Results: 11 mutations were found in the alpha-GAL gene and 8 mutations were found in the NOTCH3 gene, (prevalence of 2.7 IC:1.5;4.7 and 1.6 IC:0.8;3.1, respectively). Mutations in the alpha-GAL gene were found in ischemic stroke (2 cardioembolic, 3 Lacunar, 1 other cause, 3 unknown cause) and primary intracerebral hemorrhage (2), yield 2.2% IC (1.1;4.1) for ischemic and 0.5% (IC 0.1;1.6) for hemorrhagic stroke. Mutations in the NOTCH3 gene were found in 6 ischemic strokes (1 cardioembolic, 2 lacunar, 3 unknown cause), yield 1.2% (IC 0.5;2.5) and 2 primary intracerebral hemorrhage, yield 0.4% (Ic 0.1;1.3). Conclusion: Screening for Fabry disease and CADASIL seems to have a low yield. In spite of this, both diseases should be considered for ischemic and hemorrhagic stroke.

Language: Portuguese

Type (Professor's evaluation): Scientific