title: Brain involvement in Alström syndrome.
abstract: BACKGROUND
  Alström Syndrome (AS) is a rare ciliopathy characterized by cone-rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy. Most patients do not present with neurological issues and demonstrate normal intelligence, although delayed psychomotor development and psychiatric disorders have been reported. To date, brain Magnetic Resonance Imaging (MRI) abnormalities in AS have not been explored.
  
  
  METHODS
  We investigated structural brain changes in 12 genetically proven AS patients (mean-age 22 years; range: 6-45, 6 females) and 19 matched healthy and positive controls (mean-age 23 years; range: 6-43; 12 females) using conventional MRI, Voxel-Based Morphometry (VBM) and Diffusion Tensor Imaging (DTI).
  
  
  RESULTS
  6/12 AS patients presented with brain abnormalities such as ventricular enlargement (4/12), periventricular white matter abnormalities (3/12) and lacune-like lesions (1/12); all patients older than 30 years had vascular-like lesions. VBM detected grey and white matter volume reduction in AS patients, especially in the posterior regions. DTI revealed significant fractional anisotropy decrease and radial diffusivity increase in the supratentorial white matter, also diffusely involving those regions that appeared normal on conventional imaging. On the contrary, axial and mean diffusivity did not differ from controls except in the fornix.
  
  
  CONCLUSIONS
  Brain involvement in Alström syndrome is not uncommon. Early vascular-like lesions, gray and white matter atrophy, mostly involving the posterior regions, and diffuse supratentorial white matter derangement suggest a role of cilia in endothelial cell and oligodendrocyte function.
authors: Neuroradiology Unit, IRCCS San Camillo Hospital Venezia, and Department of Neurosciences, University of Padua, Padova, Italy. valentinacitton@gmail.com
authors: Valentina
authors: V
authors: Citton
authors: Angela
authors: A
authors: Favaro
authors: Vera
authors: V
authors: Bettini
authors: Joseph
authors: J
authors: Gabrieli
authors: Gabriella
authors: G
authors: Milan
authors: Nella Augusta
authors: NA
authors: Greggio
authors: Jan D
authors: JD
authors: Marshall
authors: Jürgen K
authors: JK
authors: Naggert
authors: Renzo
authors: R
authors: Manara
authors: Pietro
authors: P
authors: Maffei
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D056769:Alstrom Syndrome / Q000503:physiopathology*; D001921:Brain / Q000503:physiopathology*; D002648:Child; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D055815:Young Adult