TY - JOUR
T1 - The role of clinical and neuroimaging features in the diagnosis of CADASIL
AU - on behalf of Lombardia GENS-group
AU - Bersano, Anna
AU - Bedini, Gloria
AU - Markus, Hugh Stephen
AU - Vitali, Paolo
AU - Colli-Tibaldi, Enrico
AU - Taroni, Franco
AU - Gellera, Cinzia
AU - Baratta, Silvia
AU - Mosca, Lorena
AU - Carrera, Paola
AU - Ferrari, Maurizio
AU - Cereda, Cristina
AU - Grieco, Gaetano
AU - Lanfranconi, Silvia
AU - Mazucchelli, Franca
AU - Zarcone, Davide
AU - De Lodovici, Maria Luisa
AU - Bono, Giorgio
AU - Boncoraglio, Giorgio Battista
AU - Parati, Eugenio Agostino
AU - Calloni, Maria Vittoria
AU - Perrone, Patrizia
AU - Bordo, Bianca Maria
AU - Motto, Cristina
AU - Agostoni, Elio
AU - Pezzini, Alessandro
AU - Padovani, Alessandro
AU - Micieli, Giuseppe
AU - Cavallini, Anna
AU - Sessa, Maria
AU - Comi, Giancarlo
AU - Corato, Manuel
AU - Marcheselli, Simona
AU - Beretta, Simone
AU - Silani, Vincenzo
AU - Faragò, Giuseppe
AU - Meola, Giovanni
AU - Del Zotto, Elisabetta
AU - Bassi, Pietro
AU - Bersano, Anna
AU - Canavero, Isabella
AU - Arbustini, Eloisa
AU - Grasso, Maurizia
AU - Comi, Giacomo Pietro
AU - Corti, Stefania
AU - Ronchi, Dario
AU - Merlini, Giampaolo
AU - Obici, Laura
AU - Bassi, Maria Teresa
AU - Tagliavini, Fabrizio
PY - 2018
Y1 - 2018
N2 - Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. 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.
AB - Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. 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.
KW - CADASIL
KW - Diagnosis
KW - Monogenic disorders
KW - Neuroimaging
KW - NOTCH3 gene
KW - Stroke genetics
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U2 - 10.1007/s00415-018-9072-8
DO - 10.1007/s00415-018-9072-8
M3 - Article
AN - SCOPUS:85055281704
VL - 265
SP - 2934
EP - 2943
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 12
ER -