title: MRI characteristics and scoring in HDLS due to CSF1R gene mutations.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
authors: Christina
authors: C
authors: Sundal
authors: Jay A
authors: JA
authors: Van Gerpen
authors: Alexandra M
authors: AM
authors: Nicholson
authors: Christian
authors: C
authors: Wider
authors: Elizabeth A
authors: EA
authors: Shuster
authors: Jan
authors: J
authors: Aasly
authors: Salvatore
authors: S
authors: Spina
authors: Bernardino
authors: B
authors: Ghetti
authors: Sigrun
authors: S
authors: Roeber
authors: James
authors: J
authors: Garbern
authors: Anne
authors: A
authors: Borjesson-Hanson
authors: Alex
authors: A
authors: Tselis
authors: Russell H
authors: RH
authors: Swerdlow
authors: Bradley B
authors: BB
authors: Miller
authors: Shinsuke
authors: S
authors: Fujioka
authors: Michael G
authors: MG
authors: Heckman
authors: Ryan J
authors: RJ
authors: Uitti
authors: Keith A
authors: KA
authors: Josephs
authors: Matt
authors: M
authors: Baker
authors: Oluf
authors: O
authors: Andersen
authors: Rosa
authors: R
authors: Rademakers
authors: Dennis W
authors: DW
authors: Dickson
authors: Daniel
authors: D
authors: Broderick
authors: Zbigniew K
authors: ZK
authors: Wszolek
mesh_terms: D001284:Atrophy / Q000209:etiology / Q000473:pathology; D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000145:classification* / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics*
chemical_list: D016186:Receptor, Macrophage Colony-Stimulating Factor