The role of clinical and neuroimaging features in the diagnosis of CADASIL.
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Bersano Anna, Bedini Gloria, Markus Hugh Stephen, Vitali Paolo, Colli-Tibaldi Enrico, Taroni Franco, Gellera Cinzia, Baratta Silvia, Mosca Lorena, Carrera Paola, Ferrari Maurizio, Cereda Cristina, Grieco Gaetano, Lanfranconi Silvia, Mazucchelli Franca, Zarcone Davide, De Lodovici Maria Luisa, Bono Giorgio, Boncoraglio Giorgio Battista, Parati Eugenio Agostino, Calloni Maria Vittoria, Perrone Patrizia, Bordo Bianca Maria, Motto Cristina, Agostoni Elio, Pezzini Alessandro, Padovani Alessandro, Micieli Giuseppe, Cavallini Anna, Molini Graziella, Sasanelli Francesco, Sessa Maria, Comi Giancarlo, Checcarelli Nicoletta, Carmerlingo Massimo, Corato Manuel, Marcheselli Simona, Fusi Laura, Grampa Giampiero, Uccellini Davide, Beretta Simone, Ferrarese Carlo, Incorvaia Barbara, Tadeo Carlo Sebastiano, Adobbati Laura, Silani Vincenzo, Faragò Giuseppe, Trobia Nadia, Grond-Ginsbach Caspar, Candelise Livia, Lombardia GENS-group
Аннотация
METHODS: Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities.
RESULTS: 128 patients (mean age 56.3 ± 12.4 years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of these factors together with familial history for stroke result in a higher positive predictive value and specificity.
CONCLUSIONS: A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield.