http://www.cnr.it/ontology/cnr/individuo/prodotto/ID178112

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. (Articolo in rivista)

Type

Prodotto della ricerca (Classe)
Articolo in rivista (Classe)

Label

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. (Articolo in rivista) (literal)

Anno

2010-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

10.1212/WNL.0b013e3181c7da7c (literal)

Alternative label

Pantoni L; Pescini F; Nannucci S; Sarti C; Bianchi S; Dotti MT; Federico A; Inzitari D. (2010)
Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients.
in Neurology
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Pantoni L; Pescini F; Nannucci S; Sarti C; Bianchi S; Dotti MT; Federico A; Inzitari D. (literal)

Pagina inizio

57 (literal)

Pagina fine

63 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

http://www.neurology.org/content/74/1.toc (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

74 (literal)

Rivista

Neurology (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

7 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

1 (literal)

Note

PubMe (literal)
ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

Department of Neurological and Psychiatric Sciences; University of Florence and Department of Neurological and Behavioral Sciences; University of Siena, Italy. (literal)

Titolo

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. (literal)

Abstract

Objective: To report the characteristics of patients suspected to have cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) but in whom no NOTCH3 gene pathogenic mutation was found. Methods: Between 2002 and 2008, we performed NOTCH3 gene analysis (exons 2-23) in 81 probands because CADASIL was clinically suspected. A retrospective analysis and comparison of clinical, familial, and neuroimaging features of patients with and without pathogenic mutations was performed. Results: CADASIL was diagnosed in 16/81 (20%) probands by finding a mutation leading to a cysteine substitution within the epidermal growth factor (EGF)-like repeats of the NOTCH3 receptor. In the remaining 65 patients, no pathogenic mutation was found. Some features were significantly (Fisher exact test p < 0.05) more frequent in CADASIL than in NOTCH3-negative patients: history of migraine (73 vs 39%), stroke before the age of 60 among relatives (71 vs 32%), severe leukoencephalopathy (94 vs 62%), white matter changes extended to the anterior temporal lobes (93 vs 45%), external capsule involvement (100 vs 50%), and presence of lacunar infarcts (100 vs 65%). The frequency of vascular risk factors was balanced between the 2 groups. No feature was peculiar to either group. Conclusions: Although certain clinical and neuroimaging features are more frequent in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) than in NOTCH3-negative patients, none is pathognomonic. Clinicians should be aware that when diagnosing CADASIL, a number of patients with a cerebral disease phenotypically similar to CADASIL emerge. The genetic profile of these diseases and the full phenotypic difference with CADASIL remain to be further defined. (literal)

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