The role of clinical and neuroimaging features in the diagnosis of CADASIL

Lombardia GENS-group, Anna Bersano, Gloria Bedini, Hugh Stephen Markus, Paolo Vitali, Enrico Colli-Tibaldi, Franco Taroni, Cinzia Gellera, Silvia Baratta, Lorena Mosca, Paola Carrera, Maurizio Ferrari, Cristina Cereda, Gaetano Grieco, Silvia Lanfranconi, Franca Mazucchelli, Davide Zarcone, Maria Luisa De Lodovici, Giorgio Bono, Giorgio Battista Boncoraglio & 31 others Eugenio Agostino Parati, Maria Vittoria Calloni, Patrizia Perrone, Bianca Maria Bordo, Cristina Motto, Elio Agostoni, Alessandro Pezzini, Alessandro Padovani, Giuseppe Micieli, Anna Cavallini, Graziella Molini, Francesco Sasanelli, Maria Sessa, Giancarlo Comi, Nicoletta Checcarelli, Massimo Carmerlingo, Manuel Corato, Simona Marcheselli, Laura Fusi, Giampiero Grampa, Davide Uccellini, Simone Beretta, Carlo Ferrarese, Barbara Incorvaia, Carlo Sebastiano Tadeo, Laura Adobbati, Vincenzo Silani, Giuseppe Faragò, Nadia Trobia, Caspar Grond-Ginsbach, Livia Candelise

Research output: Contribution to journalArticle

Abstract

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.
Original languageItalian
JournalJournal of Neurology
DOIs
Publication statusPublished - Oct 11 2018

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The role of clinical and neuroimaging features in the diagnosis of CADASIL. / GENS-group, Lombardia; 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.

In: Journal of Neurology, 11.10.2018.

Research output: Contribution to journalArticle

GENS-group, L, Bersano, A, Bedini, G, Markus, HS, Vitali, P, Colli-Tibaldi, E, Taroni, F, Gellera, C, Baratta, S, Mosca, L, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Lanfranconi, S, Mazucchelli, F, Zarcone, D, De Lodovici, ML, Bono, G, Boncoraglio, GB, Parati, EA, Calloni, MV, Perrone, P, Bordo, BM, Motto, C, Agostoni, E, Pezzini, A, Padovani, A, Micieli, G, Cavallini, A, Molini, G, Sasanelli, F, Sessa, M, Comi, G, Checcarelli, N, Carmerlingo, M, Corato, M, Marcheselli, S, Fusi, L, Grampa, G, Uccellini, D, Beretta, S, Ferrarese, C, Incorvaia, B, Tadeo, CS, Adobbati, L, Silani, V, Faragò, G, Trobia, N, Grond-Ginsbach, C & Candelise, L 2018, 'The role of clinical and neuroimaging features in the diagnosis of CADASIL', Journal of Neurology. https://doi.org/10.1007/s00415-018-9072-8
GENS-group, Lombardia ; 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. / The role of clinical and neuroimaging features in the diagnosis of CADASIL. In: Journal of Neurology. 2018.
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title = "The role of clinical and neuroimaging features in the diagnosis of CADASIL",
abstract = "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.",
author = "Lombardia GENS-group and Anna Bersano and Gloria Bedini and Markus, {Hugh Stephen} and Paolo Vitali and Enrico Colli-Tibaldi and Franco Taroni and Cinzia Gellera and Silvia Baratta and Lorena Mosca and Paola Carrera and Maurizio Ferrari and Cristina Cereda and Gaetano Grieco and Silvia Lanfranconi and Franca Mazucchelli and Davide Zarcone and {De Lodovici}, {Maria Luisa} and Giorgio Bono and Boncoraglio, {Giorgio Battista} and Parati, {Eugenio Agostino} and Calloni, {Maria Vittoria} and Patrizia Perrone and Bordo, {Bianca Maria} and Cristina Motto and Elio Agostoni and Alessandro Pezzini and Alessandro Padovani and Giuseppe Micieli and Anna Cavallini and Graziella Molini and Francesco Sasanelli and Maria Sessa and Giancarlo Comi and Nicoletta Checcarelli and Massimo Carmerlingo and Manuel Corato and Simona Marcheselli and Laura Fusi and Giampiero Grampa and Davide Uccellini and Simone Beretta and Carlo Ferrarese and Barbara Incorvaia and Tadeo, {Carlo Sebastiano} and Laura Adobbati and Vincenzo Silani and Giuseppe Farag{\`o} and Nadia Trobia and Caspar Grond-Ginsbach and Livia Candelise",
year = "2018",
month = "10",
day = "11",
doi = "10.1007/s00415-018-9072-8",
language = "Italian",
journal = "Journal of Neurology",
issn = "0340-5354",
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TY - JOUR

T1 - The role of clinical and neuroimaging features in the diagnosis of CADASIL

AU - GENS-group, Lombardia

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 - Molini, Graziella

AU - Sasanelli, Francesco

AU - Sessa, Maria

AU - Comi, Giancarlo

AU - Checcarelli, Nicoletta

AU - Carmerlingo, Massimo

AU - Corato, Manuel

AU - Marcheselli, Simona

AU - Fusi, Laura

AU - Grampa, Giampiero

AU - Uccellini, Davide

AU - Beretta, Simone

AU - Ferrarese, Carlo

AU - Incorvaia, Barbara

AU - Tadeo, Carlo Sebastiano

AU - Adobbati, Laura

AU - Silani, Vincenzo

AU - Faragò, Giuseppe

AU - Trobia, Nadia

AU - Grond-Ginsbach, Caspar

AU - Candelise, Livia

PY - 2018/10/11

Y1 - 2018/10/11

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.

U2 - 10.1007/s00415-018-9072-8

DO - 10.1007/s00415-018-9072-8

M3 - Articolo

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

ER -