The prevalence of incidental findings in multiple sclerosis patients.

BACKGROUND: Incidental findings arising from imaging research have important implications for patient safety. Magnetic resonance imaging is widespread in multiple sclerosis (MS) studies and care, yet the prevalence rate of incidental findings in MS is poorly defined. The absence of such reports in the MS literature suggests that such findings may be deemed inappropriate for documentation in research publications, or possibly, not fully reported at all. OBJECTIVE: We sought to document incidental findings from a study designed to detect features of chronic cerebrospinal venous insufficiency (CCSVI) in MS patients and control subjects. METHODS: Magnetic resonance images were obtained as part of a prospective study conducted between October 2010 and September 2012. Patients with MS (relapsing-remitting, primary progressive, secondary progressive), clinically isolated syndromes, and neuromyelitis optica and age/sex-matched healthy controls were included. All images were reviewed by neuro-radiologists for quality-control purposes. RESULTS: Magnetic resonance imaging was successfully obtained in 166 participants (110 patients, 56 controls). Incidental abnormalities (n = 33) were detected in 15% of patients (n = 17) and 27% of controls (n = 15), comprising 19% overall (n = 32). CONCLUSIONS: The prevalence of incidental findings from the MS population was not significantly different from the control population. However, the overall prevalence was high and warrants a careful management strategy for future imaging studies.Prévalence des découvertes fortuites chez les patients atteints de sclérose en plaques.

Cerebral cavernous malformations: mutations in Krit1.

OBJECTIVE: To find mutations in the recently identified additional exons of the Krit1 gene that causes CCM1, a disease characterized by the formation of cerebral cavernous malformations (CCM). To determine the relative frequency with which Krit1 mutations cause CCM as well as recharacterize the mutations reported in the literature. METHODS: Twenty-seven families and 11 apparently sporadic individuals affected with CCM were screened for mutations in the Krit1 gene. The gene was screened by single stranded conformation polymorphism, and variants were sequenced. Familial segregation of the mutations was determined. RESULTS: In familial samples, two new mutations in the novel upstream exons and six additional mutations in the previously identified exons were identified. No mutation was found in any of the sporadic individuals. CONCLUSIONS: Results demonstrate that the frequency of mutations found in Krit1 is 47% in the families studied and the frequency may increase as more mutations are detected. Mutations are evenly distributed in the gene and do not seem to be limited to structural domains present in Krit1. This is in accordance with the model that Krit1 could be a tumor suppressor gene.

CCM1 gene mutations in families segregating cerebral cavernous malformations.

Cerebral cavernous malformations (CCM) are vascular anomalies, sometimes inherited as an autosomal dominant trait, which can cause strokes and seizures. Recently, mutations of the CCM1 gene (chromosome 7q) have been found in a subset of families. The authors found 10 new mutations by screening 29 families and five seemingly sporadic cases of CCM. The mutations predicted truncation of the Krit1 mRNA encoded by CCM1, supporting the contention that CCM result from loss of Krit1 protein function and the possibility that this protein acts as a tumor suppressor.