MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

Détails

ID Serval
serval:BIB_64C8DDE6B697
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
MRI characteristics and scoring in HDLS due to CSF1R gene mutations.
Périodique
Neurology
Auteur⸱e⸱s
Sundal C., Van Gerpen J.A., Nicholson A.M., Wider C., Shuster E.A., Aasly J., Spina S., Ghetti B., Roeber S., Garbern J., Borjesson-Hanson A., Tselis A., Swerdlow R.H., Miller B.B., Fujioka S., Heckman M.G., Uitti R.J., Josephs K.A., Baker M., Andersen O., Rademakers R., Dickson D.W., Broderick D., Wszolek Z.K.
ISSN
1526-632X (Electronic)
ISSN-L
0028-3878
Statut éditorial
Publié
Date de publication
2012
Volume
79
Numéro
6
Pages
566-574
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
OBJECTIVE: To describe the brain MRI characteristics of hereditary diffuse leukoencephalopathy with spheroids (HDLS) with known mutations in the colony-stimulating factor 1 receptor gene (CSF1R) on chromosome 5.
METHODS: We reviewed 20 brain MRI scans of 15 patients with autopsy- or biopsy-verified HDLS and CSF1R mutations. We assessed sagittal T1-, axial T1-, T2-, proton density-weighted and axial fluid-attenuated inversion recovery images for distribution of white matter lesions (WMLs), gray matter involvement, and atrophy. We calculated a severity score based on a point system (0-57) for each MRI scan.
RESULTS: Of the patients, 93% (14 of 15) demonstrated localized WMLs with deep and subcortical involvement, whereas one patient revealed generalized WMLs. All WMLs were bilateral but asymmetric and predominantly frontal. Fourteen patients had a rapidly progressive clinical course with an initial MRI mean total severity score of 16.7 points (range 10-33.5). Gray matter pathology and brainstem atrophy were absent, and the corticospinal tracts were involved late in the disease course. There was no enhancement, and there was minimal cerebellar pathology.
CONCLUSION: Recognition of the typical MRI patterns of HDLS and the use of an MRI severity score might help during the diagnostic evaluation to characterize the natural history and to monitor potential future treatments. Indicators of rapid disease progression were symptomatic disease onset before 45 years, female sex, WMLs extending beyond the frontal regions, a MRI severity score greater than 15 points, and mutation type of deletion.
Mots-clé
Atrophy/etiology, Atrophy/pathology, Brain/pathology, Female, Humans, Leukoencephalopathies/classification, Leukoencephalopathies/genetics, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Receptor, Macrophage Colony-Stimulating Factor/genetics
Pubmed
Web of science
Création de la notice
12/02/2013 14:50
Dernière modification de la notice
20/08/2019 14:21
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